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AnnotSV ID ACMG classSV ranking class (from 1 to 5) following the 2020 joint consensus recommendation of ACMG and ClinGen SV typeType of the SV (DEL, DUP...) Annotation modeType of annotation lines generated:
- annotation on the SV full length (full)
- annotation on each gene overlapped by the SV (split)
Gene nameGene symbol LocationHover your mouse to highlight SV location annotations in the gene OMIM IDHover your mouse to highlight OMIM annotations Exomiser scoreShow how close each overlapped gene is to the patient phenotype
Highly specific and consistent phenotype: score > 0.7
Consistent phenotype: score > 0.5
PhenoGenius specificityPhenotype specificity into one of A, B, C, D or . :
A - Highly specific and relatively unique to the gene
B - Consistent with the gene, highly specific, but not necessarily unique to the gene
C - Limited association with the gene, not highly specific and/or with high genetic heterogeneity
D - Not consistent with what is expected for the gene/genomic region or not consistent in general
. - No reported phenotype
Overlapped regulatory elementsReport the name of the genes potentially badly regulated Pathogenic SVKnown pathogenic genes or genomic regions (with the same SV type; from ClinVar, ClinGen, dbVar, OMIM) completely overlapped with the SV to annotate Number of pathogenic SNV/indel overlappedPathogenic SNV/indel (from ClinVar) completely overlapped with the SV to annotate Benign SVBenign genomic regions (with the same SV type; from gnomAD, ClinVar, ClinGen, DGV, DDD, 1000g, IMH) completely overlapping the SV to annotate Left breakpoint annotationsHover your mouse to highlight the left SV breakpoint (+/- 100bp) annotations Right breakpoint annotationsHover your mouse to highlight the right SV breakpoint (+/- 100bp) annotations
5ACMG_class : 5
AnnotSV_ranking_score : 2.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3C (1518 genes, +0.90): 35+ genes wholly or partially included
5H (ADAMTS20/ALX1/ANO6/APAF1/ARID2/ATP6V0A2/CHST11/COL2A1/CS/DUSP6/GNPTAB/HOXC8/IFT81/KRT5/MARS1/MBD6/NABP2/PAH/PRICKLE1/PRIM1/PTPN11/RE:BMPR1B/RNF10/SP7/TBX3/TBX5/TCTN1/TCTN2/TRPV4, +0.30): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7).
DELSV_type : DEL
SV_length : 100967822
Gene_count : 1518
fullAnnotation_mode : full
LINC00941; LOC107984476; LOC124902911; TSPAN11; TSPAN11-AS1; [...1518genes]Gene_name : LINC00941; LOC107984476; LOC124902911; TSPAN11; TSPAN11-AS1; DDX11-AS1; DDX11; OVOS2; LOC124902912; SINHCAF; FLJ13224; LINC02387; LOC124903091; DENND5B; LOC124903111; DENND5B-AS1; LOC124902913; ETFBKMT; AMN1; LOC105369722; LOC105369724; LOC107984470; H3-5; LINC02422; LOC105369725; RESF1; BICD1-AS1; BICD1; FGD4; LOC124902914; DNM1L; YARS2; PKP2; SYT10; LOC105369726; ALG10; LOC124902915; LINC02963; LOC107984469; LOC124902916; ALG10B; LOC124902917; CPNE8; CPNE8-AS1; LOC107984484; LINC02406; KIF21A; LOC101927019; LOC124902919; ABCD2; LOC124902918; REDIC1; SLC2A13; LOC124900327; LOC112268095; LRRK2-DT; LINC02471; LOC105369735; LINC01779; LRRK2; LOC105369736; MUC19; CNTN1; LOC124903069; PDZRN4; LOC107984499; LOC107984498; LINC02400; LOC105378247; GXYLT1; YAF2; LOC124902920; LOC124902921; ZCRB1; MIR7851; PPHLN1; PRICKLE1; LINC02402; LINC02451; LINC02450; LINC02461; ADAMTS20; PUS7L; IRAK4; TWF1; TMEM117; LOC124902922; NELL2; DBX2; LOC105369742; DBX2-AS1; RACGAP1P1; PLEKHA8P1; ANO6; LOC105369743; LOC105369744; LINC00938; ARID2; LOC105369745; SCAF11; SLC38A1; LOC105378248; SLC38A2; SLC38A2-AS1; SLC38A4-AS1; LOC124902923; SLC38A4; LOC124902924; LOC124902925; LOC107984466; AMIGO2; PCED1B; MIR4698; PCED1B-AS1; LOC105369746; LOC105369747; LOC124900322; LINC02416; MIR4494; LINC02156; RPAP3; RPAP3-DT; ENDOU; RAPGEF3; SLC48A1; HDAC7; LOC124902926; LINC02354; VDR; TMEM106C; COL2A1; LOC105369752; LOC105369750; LOC124902927; SENP1; LOC101927180; PFKM; MIR6505; ASB8; CCDC184; LOC102725258; OR10AD1; LOC105369753; H1-7; ZNF641; C12orf54; ANP32D; OR8S1; OR5BS1P; LALBA; LOC124902928; KANSL2; SNORA2C; MIR1291; SNORA2A; SNORA2B; CCNT1; SPMIP11; ADCY6; MIR4701; ADCY6-DT; LOC101927241; CACNB3; DDX23; LOC105369755; RND1; CCDC65; FKBP11; ARF3; LOC124903110; WNT10B; WNT1; LOC105369757; LOC105369756; DDN; DDN-AS1; PRKAG1; KMT2D; RHEBL1; DHH; LOC105369759; LMBR1L; TUBA1B; TUBA1B-AS1; TUBA1A; TUBA1C; TROAP-AS1; PRPH; TROAP; C1QL4; DNAJC22; SPATS2; LOC100335030; KCNH3; LOC105369761; MCRS1; FAM186B; PRPF40B; FMNL3; LOC124902929; TMBIM6; NCKAP5L; BCDIN3D-AS1; BCDIN3D; FAIM2; LINC02396; LINC02395; LOC124902930; LOC105369763; AQP2; AQP5-AS1; AQP5; LOC105369764; AQP6; RACGAP1; ASIC1; SMARCD1; GPD1; COX14; CERS5; LOC124902931; LIMA1; MIR1293; LOC107984505; FAM186A; LARP4; SNORD133; DIP2B; LOC124902932; ATF1; TMPRSS12; TMT1A; HIGD1C; SLC11A2; LETMD1; CSRNP2; TFCP2; LOC124902933; POU6F1; DAZAP2; SMAGP; BIN2; LOC105369767; CELA1; GALNT6; SLC4A8; SLC4A8-AS1; SCN8A; TMDD1; FIGNL2; FIGNL2-DT; ANKRD33; ACVRL1; ACVR1B; TAMALIN-AS1; TAMALIN; LOC124902934; NR4A1; LOC107984510; NR4A1AS; ATG101; SMIM41; OR7E47P; LOC112268096; KRT80; LINC02874; LINC00592; KRT7; KRT7-AS; KRT87P; KRT86; KRT81; LOC124902935; KRT83; KRT85; KRT84; KRT82; KRT75; KRT6B; KRT6C; KRT6A; KRT5; KRT71; KRT74; KRT72; KRT73; KRT73-AS1; KRT2; KRT1; KRT77; KRT76; KRT3; KRT4; KRT79; KRT78; KRT8; MIR9898; KRT18; EIF4B; TNS2-AS1; TNS2; MIR6757; SPRYD3; IGFBP6; SOAT2; LOC124902936; CSAD; ZNF740; ITGB7; RARG; LOC122455340; MFSD5; ESPL1; PFDN5; MYG1; AAAS; SP7; SP1; AMHR2; PRR13; PCBP2; PCBP2-OT1; MAP3K12; TARBP2; NPFF; ATF7-NPFF; ATF7; LOC100652999; LOC124902937; LOC124902938; ATP5MC2; CALCOCO1; LOC105369774; CISTR; LOC105378250; LOC107984525; HOXC13-AS; HOXC13; LOC105369775; HOXC12; HOTAIR; HOXC11; HOXC-AS3; HOXC10; MIR196A2; HOXC-AS2; HOXC-AS1; HOXC9; HOXC8; LOC124902939; HOXC6; HOXC5; HOXC4; MIR615; FLJ12825; LOC100240735; LOC100240734; FAM242C; LINC02381; SMUG1-AS1; SMUG1; LOC102724030; LOC105369777; CBX5; MIR3198-2; SCAT2; HNRNPA1; NFE2; COPZ1; MIR148B; GPR84; GPR84-AS1; ZNF385A; ITGA5; GTSF1; NCKAP1L; PDE1B; PPP1R1A; GLYCAM1; LACRT; DCD; MUCL1; TESPA1; LOC107984515; NEUROD4; LOC101927484; OR9K2; OR10A7; OR6C74; OR6C6; OR6C1; OR6C3; OR6C75; OR6C65; OR6C76; LOC124902940; OR6C2; OR6C70; OR6C68; OR6C4; OR2AP1; OR10P1; TMT1B; ITGA7; BLOC1S1-RDH5; BLOC1S1; RDH5; CD63; CD63-AS1; GDF11; SARNP; ORMDL2; DNAJC14; TMEM198B; MMP19; LOC124903120; PYM1; LOC124902941; DGKA; PMEL; CDK2; RAB5B; SUOX; IKZF4; LOC105369781; RPS26; ERBB3; LOC105369782; PA2G4; RPL41; ZC3H10; ESYT1; LOC124902943; MYL6B-AS1; LOC124902942; MYL6B; MYL6; SMARCC2; LOC107984468; RNF41; NABP2; SLC39A5; ANKRD52; COQ10A; CS; CNPY2; CNPY2-AS1; PAN2; IL23A; STAT2; APOF; TIMELESS; MIP; SPRYD4; GLS2; LOC124902944; SNORA105C; RBMS2; BAZ2A; ATP5F1B; SNORD59B; SNORD59A; PTGES3; NACA; PRIM1; HSD17B6; LOC124900330; SDR9C7; RDH16; LOC124902945; GPR182; ZBTB39; TAC3; MYO1A; NEMP1; NAB2; STAT6; LOC124902946; LRP1; LRP1-AS; MIR1228; NXPH4; SHMT2; NDUFA4L2; STAC3; R3HDM2; R3HDM2-DT; INHBC; INHBE; LOC124902947; GLI1; ARHGAP9; MARS1; MIR6758; DDIT3; LOC128125814; MIR616; MBD6; DCTN2; KIF5A; PIP4K2C; DTX3; ARHGEF25; LOC101927583; SLC26A10P; B4GALNT1; OS9; AGAP2; AGAP2-AS1; TSPAN31; CDK4; MIR6759; MARCHF9; CYP27B1; METTL1; EEF1AKMT3; TSFM; AVIL; CTDSP2; MIR26A2; LOC105369783; LOC283387; LOC124902948; LOC101927608; GIHCG; ATP23; LOC105369784; LINC02403; LOC105369786; LOC105369787; LOC105369788; LOC105369789; LINC02388; LOC124902949; LOC100506869; LRIG3; LRIG3-DT; LINC02448; SLC16A7; LOC100996696; LOC124903070; LOC124903071; LOC105369793; TAFA2; LOC124902950; MIR6125; USP15; MON2; MON2-AS1; LINC01465; MIRLET7IHG; MIRLET7I; PPM1H; LOC124903103; LOC105369795; AVPR1A; LINC03056; LOC105369797; DPY19L2; RXYLT1; RXYLT1-AS1; MIR10527; SRGAP1; LOC105369801; LOC105369798; KICS2; LOC124902952; C12orf56; LOC124903101; XPOT; TBK1; LOC105369803; RASSF3; LOC124903098; LOC107984521; RASSF3-DT; MIR548C; MIR548Z; GNS; TBC1D30; LOC124903113; LINC02389; LINC02231; LOC107984522; WIF1; LOC124902953; LEMD3; MSRB3; LOC124902954; MSRB3-AS1; LOC105369809; LOC105369187; LOC105369808; LINC02454; LOC105369806; RPSAP52; HMGA2; HMGA2-AS1; LOC124902955; MIR6074; LINC02425; LLPH; LLPH-DT; TMBIM4; IRAK3; MIR6502; HELB; LOC124903104; GRIP1; LOC105369811; LOC124902956; LOC102724421; CAND1; LOC124902957; LOC105369813; LOC105369812; LOC124903072; LINC02420; LINC02408; LINC02442; DYRK2; LOC105369816; LOC124902958; LINC02421; LINC01479; IFNG-AS1; IFNG; LOC105369818; IL26; IL22; MDM1; LOC105369819; LINC02384; RAP1B; SNORA70G; LOC100507250; NUP107; SLC35E3; SZRD1P1; MDM2; CPM; TODL; CPSF6; MIR1279; LYZ; YEATS4; LINC02373; FRS2; SNORA113; MIR3913-1; MIR3913-2; CCT2; LRRC10; LOC105369823; BEST3; LOC101928002; RAB3IP; MYRFL; LOC124902959; LINC02821; PRANCR; CNOT2; KCNMB4; LOC105369828; PTPRB; PTPRR; LOC124902960; LOC124902961; TSPAN8; LOC105369831; LOC105369832; LOC124902962; LGR5; LOC105369833; LOC124902963; LOC124902964; ZFC3H1; LOC124900332; THAP2; LOC124902965; TMEM19; LOC107984530; RAB21; TBC1D15; MRS2P2; TPH2; TRHDE; TRHDE-AS1; LOC105369838; LINC02444; LOC105369839; LOC124902966; LINC02445; LOC124900319; LINC02394; LINC02882; LOC107987178; LOC124902967; ATXN7L3B; LOC101929967; LOC105369842; LOC105369843; KCNC2; LOC100130268; CAPS2-AS1; CAPS2; GLIPR1L1; LOC124902968; GLIPR1L2; GLIPR1; GLIPR1-AS1; KRR1; LOC105369844; LOC107984533; LOC105369846; LOC124902969; LOC105369847; PHLDA1; PHLDA1-AS1; PHLDA1-DT; NAP1L1; LOC124902970; LNCOG; BBS10; OSBPL8; LOC105369850; LOC105369851; ZDHHC17; CSRP2; LOC124902971; E2F7; LOC105369853; LOC124903107; LINC02464; LOC124902972; NAV3; LINC02424; LOC105369859; SYT1; LOC105369863; LOC124902973; MIR1252; PAWR; PPP1R12A-AS2; PPP1R12A; LOC124902974; PPP1R12A-AS1; OTOGL; PTPRQ; LOC124902975; LOC105369867; MYF6; MYF5; LINC01490; LIN7A; MIR617; MIR618; ACSS3; LOC107984535; MIR4699; PPFIA2; PPFIA2-AS1; LOC105369872; LINC02426; LOC105369873; CCDC59; METTL25; LOC107987180; LOC107984487; TMTC2; LOC105369874; LOC107984536; LOC124902976; LOC124903066; LOC105369875; SLC6A15; LOC102724680; TSPAN19; LRRIQ1; ALX1; LINC02820; LOC107984537; LOC124903073; RASSF9; NTS; MGAT4C; LOC105369877; MIR3059; LOC105369878; LOC105369879; LOC107984478; LOC105369880; LOC105369881; LINC02258; MKRN9P; C12orf50; LOC107984542; RLIG1; CEP290; LOC124902977; TMTC3; LOC124902978; KITLG; LOC124902979; LOC105369885; LOC105369886; LOC105369887; LINC02458; LOC105378255; DUSP6; LOC124902980; LOC124902981; POC1B; GALNT4; POC1B-GALNT4; POC1B-AS1; ATP2B1; ATP2B1-AS1; LOC107984543; LOC105369890; LINC02399; LOC105369892; LINC02392; LOC124902982; LINC02822; LOC105369895; LOC124903074; LINC00615; CCER1; EPYC; KERA; LUM; DCN; LOC124903075; LOC105369896; LOC107984544; LINC02823; LINC02404; LOC105369901; LINC01619; BTG1; BTG1-DT; LINC02391; LOC105369902; LOC107984467; CLLU1-AS1; CLLU1; LINC02397; LOC105369904; LOC105369905; LOC124902983; PLEKHG7; EEA1; LOC124902984; LINC02413; LOC643339; LOC105369908; LINC02412; LOC124903102; LOC124900325; LOC124903116; NUDT4; UBE2N; MRPL42; LOC124902985; SOCS2-AS1; SOCS2; CRADD; CRADD-AS1; LOC105369911; LOC105369912; LOC105369913; LOC124902986; PLXNC1; LOC124902988; LOC124902987; CEP83; CEP83-DT; LOC102724960; MIR5700; TMCC3; MIR7844; LOC105369914; LOC124902989; MIR492; KRT19P2; LOC105369915; NDUFA12; NR2C1; FGD6; VEZT; MIR331; MIR3685; LOC105369917; LOC107984545; METAP2; USP44; PGAM1P5; NTN4; LOC105369919; SNRPF-DT; LINC02410; SNRPF; CCDC38; AMDHD1; HAL; LOC102723340; LTA4H; LOC124902990; LOC105369923; LINC02452; ELK3; LOC124902991; CDK17; CFAP54; NEDD1; LOC124902992; LOC124902993; LOC105369928; LOC105369927; LOC101928912; LINC02409; LOC105369930; RMST; MIR1251; MIR135A2; PAFAH1B2P2; MIR4495; MIR4303; LOC105369932; LOC105369933; SLC9A7P1; LOC124902994; LINC02453; TMPO-AS1; TMPO; SLC25A3; SNORA53; IKBIP; APAF1; ANKS1B; LOC101928937; GARIN6; BLTP3B; BLTP3B-DT; GOLGA2P5; MIR1827; ACTR6; DEPDC4; SCYL2; SLC17A8; LOC124903108; NR1H4; GAS2L3; ANO4; SLC5A8; UTP20; LOC124903119; ARL1; SPIC; LOC105369935; MYBPC1; LOC105369938; LOC105369937; LOC124902996; CHPT1; SYCP3; LOC124902997; GNPTAB; LOC124903105; DRAM1; LOC107984548; WASHC3; NUP37; PARPBP; PMCH; LOC124902998; LINC02456; IGF1; LINC00485; PAH; LOC124902999; LOC112267865; ASCL1; C12orf42; LOC124903096; C12orf42-AS1; LOC105369945; LINC02401; STAB2; LOC124900318; LOC105369946; LOC124903106; NT5DC3; LOC124903000; LOC107984433; TTC41P; LOC124903001; HSP90B1; MIR3652; UQCC6; TDG; GLT8D2; HCFC2; NFYB; LOC105369947; LINC02385; TXNRD1; LOC124903002; EID3; LOC105369949; LOC124903003; CHST11; MIR3922; SLC41A2; LOC105369952; NOPCHAP1; ALDH1L2; LOC124903005; LOC414300; WASHC4; APPL2; C12orf75-AS1; C12orf75; LOC105369957; LOC105369956; LOC105369955; LOC105369958; LOC124903006; CASC18; LOC105369959; LOC107984435; LOC105369960; NUAK1; LOC124903007; CKAP4; LOC124903008; TCP11L2; POLR3B; LOC100287944; RFX4; LOC100505978; RIC8B; LOC105369961; TMEM263-DT; TMEM263; MTERF2; CRY1; LOC124903009; ABTB3; LOC124900324; PWP1; LOC124903010; PRDM4; PRDM4-AS1; ASCL4; LOC105369963; LOC728739; LOC105369964; WSCD2; LOC124903076; LOC105369965; LOC124903077; LOC124903078; CMKLR1; LINC01498; FICD; SART3; ISCU; TMEM119; SELPLG; LOC105369968; MIR4496; CORO1C; LOC105369969; LOC124900333; SSH1; LOC101929204; MIR619; DAO; LOC124903011; SVOP; LOC105378256; USP30; USP30-AS1; ALKBH2; UNG; ACACB; LOC105369974; FOXN4; MYO1H; LINC01486; KCTD10; UBE3B; MMAB; MVK; FAM222A; FAM222A-AS1; TRPV4; MIR4497; LOC105369975; GLTP; TCHP; LOC124903012; GIT2; LOC124903013; ANKRD13A; C12orf76; LOC105369976; IFT81; ATP2A2; LOC124903014; ANAPC7; ARPC3; GPN3; FAM216A; LOC124903016; VPS29; LOC124903015; LOC124903099; RAD9B; PPTC7; TCTN1; HVCN1; LOC124903017; PPP1CC; CCDC63; MYL2; LINC01405; LINC01404; LOC105369981; CUX2; LOC124903018; LOC105369983; MIR6760; PHETA1; LINC02356; SH2B3; LOC124903019; ATXN2; LOC124903094; ATXN2-AS; BRAP; LOC124903020; ACAD10; ALDH2; MIR6761; MAPKAPK5-AS1; MAPKAPK5; TMEM116; ERP29; LOC124903021; NAA25; MIR3657; LOC124903022; TRAFD1; HECTD4; MIR6861; RPL6; PTPN11; LOC124903023; LOC124903024; RPH3A; MIR1302-1; OAS1; OAS3; OAS2; DTX1; RASAL1; CFAP73; DDX54; MIR7106; RITA1; IQCD; TPCN1; MIR6762; SLC8B1; LOC105369989; PLBD2; SDS; SDSL; LHX5; LHX5-AS1; LOC105369990; LOC105369991; LINC01234; RBM19; LOC124903025; LOC105369993; LOC105369994; LOC105369995; LINC02459; TBX5; TBX5-AS1; LOC105369998; LOC124903026; TBX3; TBX3-AS1; LOC105369999; LOC124900329; LOC124903079; LOC124903080; LOC102723639; LOC124903081; LOC124903082; LOC105370003; LOC105370002; LINC02463; LOC124900323; MED13L; MIR620; LOC105370005; MIR4472-2; LOC105370007; LOC105370008; LINC02457; LINC00173; MAP1LC3B2; LOC124903028; LINC03088; SPRING1; RNFT2; HRK; FBXW8; LOC100506551; TESC; TESC-AS1; LOC105370010; FBXO21; NOS1; KSR2; LOC105370012; LOC105370011; RFC5; WSB2; LOC124903030; VSIG10; LOC124903029; LOC101928274; PEBP1; TAOK3; LOC124903031; SUDS3; LINC02460; LINC02423; LINC02440; LOC105370017; LOC107984472; LINC02439; LOC105370018; LOC105370019; LOC124900328; LOC105370020; SRRM4; LOC105370022; LOC105370021; LOC112268101; LOC105370024; HSPB8; LOC107984440; LOC105370026; LOC105370025; LOC124903032; LINC00934; CCDC60; LOC105370027; TMEM233; PRKAB1; LOC124903033; CIT; MIR1178; LOC112268087; BICDL1; LOC124903114; RAB35; RAB35-AS1; GCN1; MIR4498; RPLP0; PXN-AS1; PXN; LOC124903034; RNU4-2; SIRT4; RNU4-1; PLA2G1B; MSI1; COX6A1; TRIAP1; GATC; SRSF9; DYNLL1; NRAV; COQ5; RNF10; LOC128071547; POP5; CABP1-DT; CABP1; LOC105370029; MLEC; LOC124903035; LOC124903036; UNC119B; MIR4700; ACADS; SPPL3; XLOC_009911; HNF1A-AS1; HNF1A; C12orf43; OASL; LOC105378258; LOC105370031; LOC124900320; LOC105370030; LOC105370032; P2RX7; P2RX4; CAMKK2; ANAPC5; LOC124903037; RNF34; KDM2B; MIR7107; KDM2B-DT; ORAI1; MORN3; LOC105370034; TMEM120B; RHOF; SETD1B; LINC01089; HPD; LOC105370035; PSMD9; CFAP251; LOC124903038; BCL7A; LINC02985; MLXIP; LRRC43; IL31; B3GNT4; DIABLO; LOC128125816; LOC101593348; VPS33A; CLIP1; CLIP1-AS1; ZCCHC8; RSRC2; KNTC1; MIR9902-1; HCAR2; MIR9902-2; HCAR3; HCAR1; DENR; CCDC62; LOC124903040; HIP1R; LOC124903039; VPS37B; ABCB9; OGFOD2; ARL6IP4; PITPNM2; MIR4304; PITPNM2-AS1; MPHOSPH9; MTRFR; CDK2AP1; SBNO1; MIR8072; SBNO1-AS1; KMT5A; RILPL2; LOC124903041; SNRNP35; RILPL1; MIR3908; LOC124903042; TMED2-DT; TMED2; DDX55; LOC105370041; SNORA9B; EIF2B1; GTF2H3; TCTN2; ATP6V0A2; LOC105370042; DNAH10; LOC105370044; LOC124903043; DNAH10OS; CCDC92; ZNF664; ZNF664-RFLNA; RFLNA; NCOR2; MIR6880; LOC124903044; LOC105370047; LOC101927436; LOC124903045; SCARB1; LOC124903046; LOC105370050; UBC; MIR5188; DHX37; BRI3BP; THRIL; LOC105370052; AACS; LOC105370053; TMEM132B; LOC105370054; LOC107984445; LOC105370055; LOC124903047; LINC00939; LINC02826; LOC105370058; LOC105370056; LINC02359; LOC107984447; LOC105379613; LOC101927531; LOC107984448; LINC02825; LOC124903048; LINC02350; LINC02347; LOC100996671; LINC02824; LINC00944; LINC00943; LINC02372; LOC105370061; LINC02405; LOC105370063; LOC107984449; LOC107984450; LOC105370062; LOC105370064; LOC124903049; LINC02376; LOC124903050; LINC02375; LOC105370066; LOC105370067; LOC124903051; LINC02411; LOC105370068; LOC105370069; LOC124903052; LINC02393; LINC00508; LINC00507; LINC02441; LOC105370071; LINC02369; LINC02368; LOC107987176; TMEM132C; MIR3612; SLC15A4; LOC124903083; LOC100128276; GLT1D1; LOC124903084; LOC105370073; TMEM132D; LOC124903086; TMEM132D-AS1; TMEM132D-AS2; LOC105370074; LOC124903085; LOC105370076; LOC124903087; LINC02418; LOC105370077; LINC02419; LOC124903088; FZD10-AS1; FZD10; LOC107984480; LOC101927786; PIWIL1; RIMBP2; LOC105370080; STX2; LOC124903053; RAN; ADGRD1; LOC124903054; ADGRD1-AS1; LOC107984452; LINC01257; LOC105370082; LOC107987177; LOC100128002; LINC02415; LOC124903055; LINC02370; LOC124903090; LOC101929974; LOC124903056; LOC105370084; LINC02414; LOC105370086; LOC100996701; LOC124903057; LOC105370087; SFSWAP;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : .
DDD_HI_percent : .
ExAC_cnvZ : 1.85937346161046
ExAC_delZ : 2.00971959053756
ExAC_dupZ : 1.83044712798202
ExAC_synZ : 3.2671313474293
ExAC_misZ : 10.3449308517202
Closest_left : LOC645485
Closest_right : LOC105370088
.Location : .
CytoBand : p11.21-q24.33
601150; 611104; 603850; 610957; 602861; OMIM_ID : 601150; 611104; 603850; 610957; 602861; 603313; 608283; 609007; 600016; 608500; 606883; 608663; 609539; 601769; 120140; 610681; 600294; 611088; 601906; 164820; 602113; 605423; 602529; 170710; 107777; 600442; 604980; 601735; 138420; 614478; 608364; 611379; 600523; 600702; 601284; 601300; 601928; 602153; 602765; 602767; 609025; 148042; 612315; 148041; 148040; 608245; 608248; 600194; 139350; 148043; 123940; 148070; 605378; 606633; 600956; 142976; 164017; 141180; 600536; 601617; 603936; 601807; 606887; 603701; 190151; 601734; 608730; 600556; 603887; 154050; 102910; 176635; 609769; 162330; 601512; 107770; 138450; 615521; 165220; 156560; 602821; 601873; 123829; 609506; 604723; 613397; 613893; 605862; 606523; 604834; 607664; 607844; 613719; 600698; 604459; 604597; 147570; 179530; 607617; 164785; 153450; 604909; 607478; 176256; 610148; 185605; 602021; 614925; 603317; 159990; 601527; 610142; 617218; 184745; 602748; 614784; 108731; 603288; 125255; 603454; 615847; 614530; 609457; 600370; 616365; 607557; 603826; 160794; 604759; 607840; 609264; 147440; 612349; 610128; 615748; 614366; 601933; 611911; 191525; 614636; 608047; 607568; 251170; 605427; 605489; 108740; 606949; 609863; 160781; 610648; 605093; 601517; 100650; 606723; 620209; 176876; 164350; 601620; 601621; 608771; 608014; 605629; 602072; 617210; 616359; 606885; 142410; 610277; 611055; 609695; 618146; 605219; 610034; 616381; 613481; 613541; 614092; 606686; 613846; 611716; 605884; 601040; 617362;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
1.0000Exomiser_gene_pheno_score : 1.0000
APhenoGenius_specificity : A
HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); TWIST[...]RE_gene : HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); TWIST1 (HI=3/PG=A/EX=1.0000/morbid/RE=mTL_miRNA); LRP4 (EX=1.0000/morbid/RE=mTL_miRNA); GLI3 (HI=3/EX=1.0000/morbid/RE=mTL_miRNA); TBX4 (HI=3/EX=1.0000/morbid/RE=mTL_miRNA); FGFR1 (HI=3/PG=A/EX=1.0000/morbid/RE=mTL_miRNA); BMPR1B (PG=A/EX=1.0000/morbid/RE=mTL_miRNA); MOGS (EX=1.0000/morbid/RE=mTL_miRNA); SPRY4 (EX=0.9895/morbid/RE=mTL_miRNA); ADAMTS17 (PG=A/EX=0.9861/morbid/RE=mTL_miRNA); FGF9 (EX=0.9722/morbid/RE=mTL_miRNA); KAT6A (HI=3/EX=0.9709/morbid/RE=mTL_miRNA); PITX1 (EX=0.9707/morbid/RE=mTL_miRNA); AXIN2 (HI=3/EX=0.9548/morbid/RE=mTL_miRNA); NIPBL (HI=3/EX=0.9528/morbid/RE=mTL_miRNA); HNRNPK (HI=3/EX=0.9121/morbid/RE=mTL_miRNA); TLK2 (EX=0.9033/morbid/RE=mTL_miRNA); RUNX2 (PG=A/EX=0.8996/morbid/RE=mTL_miRNA); MSX2 (PG=A/EX=0.8989/morbid/RE=mTL_miRNA); EFNB1 (EX=0.8987/morbid/RE=mTL_miRNA); IL6ST (EX=0.8959/morbid/RE=mTL_miRNA); CWC27 (EX=0.8939/morbid/RE=mTL_miRNA); SCUBE3 (EX=0.8922/morbid/RE=mTL_miRNA); TGFBR2 (PG=A/EX=0.8790/morbid/RE=mTL_miRNA); SLC39A8 (EX=0.8786/morbid/RE=mTL_miRNA); LMBR1 (EX=0.8742/morbid/RE=mTL_miRNA); COL1A1 (HI=3/EX=0.8742/morbid/RE=mTL_miRNA); HUWE1 (EX=0.8738/morbid/RE=mTL_miRNA); SALL4 (HI=3/EX=0.8723/morbid/RE=mTL_miRNA); NUP85 (EX=0.8681/morbid/RE=mTL_miRNA); CEP152 (EX=0.8681/morbid/RE=mTL_miRNA); PCNT (EX=0.8681/morbid/RE=mTL_miRNA); DNA2 (EX=0.8681/morbid/RE=mTL_miRNA); DSE (EX=0.8650/morbid/RE=mTL_miRNA); FBN2 (EX=0.8640/morbid/RE=mTL_miRNA); RECQL4 (EX=0.8639/morbid/RE=mTL_miRNA); ESCO2 (EX=0.8612/morbid/RE=mTL_miRNA); KANSL1 (HI=3/EX=0.8600/morbid/RE=mTL_miRNA); MAF (EX=0.8595/morbid/RE=mTL_miRNA); LBR (EX=0.8586/morbid/RE=mTL_miRNA); SALL1 (EX=0.8565/morbid/RE=mTL_miRNA); MEGF8 (EX=0.8550/morbid/RE=mTL_miRNA); CEP57 (EX=0.8533/morbid/RE=mTL_miRNA); SLC12A6 (EX=0.8530/morbid/RE=mTL_miRNA); ATRX (HI=3/EX=0.8529/morbid/RE=mTL_miRNA); AHDC1 (HI=3/EX=0.8525/morbid/RE=mTL_miRNA); SETD1A (HI=3/EX=0.8525/morbid/RE=mTL_miRNA); NFIX (HI=3/EX=0.8525/morbid/RE=mTL_miRNA); PSAT1 (EX=0.8525/morbid/RE=mTL_miRNA); COLEC10 (EX=0.8525/morbid/RE=mTL_miRNA); SNX10 (EX=0.8525/morbid/RE=mTL_miRNA); ZBTB16 (EX=0.8508/morbid/RE=mTL_miRNA); SLC35A2 (HI=3/EX=0.8503/morbid/RE=mTL_miRNA); FREM2 (EX=0.8486/morbid/RE=mTL_miRNA); CCBE1 (EX=0.8484/morbid/RE=mTL_miRNA); SKI (EX=0.8478/morbid/RE=mTL_miRNA); STAT3 (EX=0.8476/morbid/RE=mTL_miRNA); EHMT1 (HI=3/EX=0.8476/morbid/RE=mTL_miRNA); TMEM67 (EX=0.8476/morbid/RE=mTL_miRNA); PIGT (EX=0.8475/morbid/RE=mTL_miRNA); IPO8 (EX=0.8466/morbid/RE=EA_enhancer+GH_enhancer+GH_promoter_enhancer); PTCH1 (HI=3/EX=0.8463/morbid/RE=mTL_miRNA); YY1 (EX=0.8454/morbid/RE=mTL_miRNA); RAB23 (PG=A/EX=0.8447/morbid/RE=mTL_miRNA); ATP7A (HI=3/EX=0.8446/morbid/RE=mTL_miRNA); ZNF699 (EX=0.8439/morbid/RE=mTL_miRNA); IGF2R (EX=0.8431/morbid/RE=mTL_miRNA); ORC4 (EX=0.8416/morbid/RE=mTL_miRNA); ORC6 (EX=0.8416/morbid/RE=mTL_miRNA); CDT1 (EX=0.8416/morbid/RE=mTL_miRNA); THRA (EX=0.8384/morbid/RE=mTL_miRNA); MED12 (EX=0.8372/morbid/RE=mTL_miRNA); B4GALT7 (EX=0.8359/morbid/RE=mTL_miRNA); SMAD4 (HI=3/EX=0.8357/morbid/RE=mTL_miRNA); RTTN (EX=0.8349/morbid/RE=mTL_miRNA); OTUD5 (EX=0.8335/morbid/RE=mTL_miRNA); GRHL2 (EX=0.8332/morbid/RE=mTL_miRNA); IRX5 (EX=0.8322/morbid/RE=mTL_miRNA); LMNB1 (TS=3/EX=0.8290/morbid/RE=mTL_miRNA); SETD2 (HI=3/EX=0.8288/morbid/RE=mTL_miRNA); NSD1 (HI=3/EX=0.8288/morbid/RE=mTL_miRNA); TMCO1 (EX=0.8286/morbid/RE=mTL_miRNA); CEP135 (EX=0.8280/morbid/RE=mTL_miRNA); GPC6 (EX=0.8264/morbid/RE=mTL_miRNA); PPP1CB (EX=0.8264/morbid/RE=mTL_miRNA); SON (HI=3/EX=0.8264/morbid/RE=mTL_miRNA); NFIA (HI=3/EX=0.8264/morbid/RE=mTL_miRNA); CNNM2 (EX=0.8263/morbid/RE=mTL_miRNA); GNAS (HI=3/PG=A/EX=0.8240/morbid/RE=mTL_miRNA); LRP6 (EX=0.8225/morbid/RE=mTL_miRNA); DDX3X (HI=3/EX=0.8221/morbid/RE=mTL_miRNA); NXN (EX=0.8212/morbid/RE=mTL_miRNA); TTC21B (EX=0.8204/morbid/RE=mTL_miRNA); CCNQ (EX=0.8202/morbid/RE=mTL_miRNA); PTEN (HI=3/PG=A/EX=0.8195/morbid/RE=mTL_miRNA); CREBBP (HI=3/EX=0.8187/morbid/RE=mTL_miRNA); TBX2 (EX=0.8166/morbid/RE=mTL_miRNA); AMER1 (EX=0.8152/morbid/RE=mTL_miRNA); GJA5 (EX=0.8151/morbid/RE=mTL_miRNA); GATA6 (HI=3/EX=0.8151/morbid/RE=mTL_miRNA); FLT4 (EX=0.8151/morbid/RE=mTL_miRNA); NKX2-5 (HI=3/EX=0.8151/morbid/RE=mTL_miRNA); JAG1 (HI=3/EX=0.8151/morbid/RE=mTL_miRNA); KCNJ2 (EX=0.8130/morbid/RE=mTL_miRNA); DYNC2H1 (EX=0.8110/morbid/RE=mTL_miRNA); PDE4D (PG=A/EX=0.8099/morbid/RE=mTL_miRNA); PPM1D (EX=0.8097/morbid/RE=mTL_miRNA); C12orf57 (EX=0.8087/morbid/RE=mTL_miRNA); MPLKIP (EX=0.8078/morbid/RE=mTL_miRNA); GTF2H5 (EX=0.8078/morbid/RE=mTL_miRNA); CTCF (HI=3/EX=0.8061/morbid/RE=mTL_miRNA); DNM1 (EX=0.8056/morbid/RE=mTL_miRNA); PCCB (EX=0.8056/morbid/RE=mTL_miRNA); DLG5 (EX=0.8056/morbid/RE=mTL_miRNA); ACTG1 (EX=0.8056/morbid/RE=mTL_miRNA); TONSL (EX=0.8052/morbid/RE=mTL_miRNA); KIAA0586 (EX=0.8043/morbid/RE=mTL_miRNA); ARHGAP31 (EX=0.8041/morbid/RE=mTL_miRNA); SMC1A (HI=3/EX=0.8038/morbid/RE=mTL_miRNA); PDGFRA (EX=0.8026/morbid/RE=mTL_miRNA); IGF2 (EX=0.8014/morbid/RE=mTL_miRNA); FLNA (HI=3/PG=A/EX=0.7996/morbid/RE=mTL_miRNA); RPS6KA3 (HI=3/EX=0.7990/morbid/RE=mTL_miRNA); AFF4 (EX=0.7987/morbid/RE=mTL_miRNA); NOTCH2 (EX=0.7972/morbid/RE=mTL_miRNA); PTCH2 (EX=0.7969/morbid/RE=mTL_miRNA); SC5D (EX=0.7963/morbid/RE=mTL_miRNA); TFAP2A (EX=0.7962/morbid/RE=mTL_miRNA); LAMA5 (EX=0.7954/morbid/RE=mTL_miRNA); TCOF1 (HI=3/EX=0.7950/morbid/RE=mTL_miRNA); CHSY1 (EX=0.7941/morbid/RE=mTL_miRNA); ASPH (EX=0.7941/morbid/RE=mTL_miRNA); PNPLA6 (EX=0.7939/morbid/RE=mTL_miRNA); HAAO (EX=0.7939/morbid/RE=mTL_miRNA); KYNU (EX=0.7939/morbid/RE=mTL_miRNA); FTO (EX=0.7936/morbid/RE=mTL_miRNA); BMP4 (EX=0.7936/morbid/RE=mTL_miRNA); DPYSL5 (EX=0.7856/morbid/RE=mTL_miRNA); MMACHC (EX=0.7849/morbid/RE=mTL_miRNA); CC2D2A (EX=0.7842/morbid/RE=mTL_miRNA); DLL4 (EX=0.7841/morbid/RE=mTL_miRNA); RB1 (HI=3/EX=0.7838/morbid/RE=mTL_miRNA); CBFB (EX=0.7836/morbid/RE=mTL_miRNA); GDF6 (EX=0.7833/morbid/RE=mTL_miRNA); TRAF3IP1 (EX=0.7831/morbid/RE=mTL_miRNA); SOX11 (HI=3/EX=0.7815/morbid/RE=mTL_miRNA); SHOX (EX=0.7812/morbid/RE=mTL_miRNA); LMNA (HI=3/PG=A/EX=0.7790/morbid/RE=mTL_miRNA); BGN (EX=0.7784/morbid/RE=mTL_miRNA); WNT5A (PG=A/EX=0.7772/morbid/RE=mTL_miRNA); CRIPT (EX=0.7772/morbid/RE=mTL_miRNA); SMC3 (EX=0.7762/morbid/RE=mTL_miRNA); FOXC1 (HI=3/EX=0.7752/morbid/RE=mTL_miRNA); TP63 (EX=0.7731/morbid/RE=mTL_miRNA); SLC26A2 (EX=0.7727/morbid/RE=mTL_miRNA); MBD4 (EX=0.7713/morbid/RE=mTL_miRNA); FLII (EX=0.7683/morbid/RE=mTL_miRNA); IQSEC2 (HI=3/EX=0.7683/morbid/RE=mTL_miRNA); SPEN (EX=0.7678/morbid/RE=mTL_miRNA); PRDM16 (EX=0.7678/morbid/RE=mTL_miRNA); PCYT1A (EX=0.7640/morbid/RE=mTL_miRNA); TMEM216 (EX=0.7629/morbid/RE=mTL_miRNA); PDE6D (EX=0.7629/morbid/RE=mTL_miRNA); EXTL3 (EX=0.7598/morbid/RE=mTL_miRNA); SLC2A1 (HI=3/EX=0.7598/morbid/RE=mTL_miRNA); PIK3CA (EX=0.7598/morbid/RE=mTL_miRNA); HRAS (EX=0.7598/morbid/RE=mTL_miRNA); PGM3 (EX=0.7598/morbid/RE=mTL_miRNA); MRPS16 (EX=0.7598/morbid/RE=mTL_miRNA); SEC23B (EX=0.7598/morbid/RE=mTL_miRNA); KRAS (PG=A/EX=0.7598/morbid/RE=mTL_miRNA); STX16 (EX=0.7598/morbid/RE=mTL_miRNA); LTBP2 (EX=0.7598/morbid/RE=mTL_miRNA); SDHC (HI=3/EX=0.7598/morbid/RE=mTL_miRNA); KLLN (EX=0.7598/morbid/RE=mTL_miRNA); PIGS (EX=0.7584/morbid/RE=mTL_miRNA); SH3PXD2B (EX=0.7582/morbid/RE=mTL_miRNA); CSGALNACT1 (EX=0.7576/morbid/RE=mTL_miRNA); ACVR1 (EX=0.7548/morbid/RE=mTL_miRNA); MORC2 (EX=0.7540/morbid/RE=mTL_miRNA); ARL6 (EX=0.7539/morbid/RE=mTL_miRNA); EOGT (EX=0.7538/morbid/RE=mTL_miRNA); NOTCH1 (EX=0.7538/morbid/RE=mTL_miRNA); RBPJ (EX=0.7538/morbid/RE=mTL_miRNA); RAC3 (EX=0.7533/morbid/RE=mTL_miRNA); HNRNPR (EX=0.7521/morbid/RE=mTL_miRNA); DVL3 (EX=0.7512/morbid/RE=mTL_miRNA); KDM5C (HI=3/EX=0.7492/morbid/RE=mTL_miRNA); SIL1 (EX=0.7492/morbid/RE=mTL_miRNA); DCPS (EX=0.7492/morbid/RE=mTL_miRNA); BBS5 (EX=0.7489/morbid/RE=mTL_miRNA); SRCAP (EX=0.7488/morbid/RE=mTL_miRNA); BNC2 (EX=0.7486/morbid/RE=mTL_miRNA); CBS (EX=0.7482/morbid/RE=mTL_miRNA); TRIP13 (EX=0.7473/morbid/RE=mTL_miRNA); SCNM1 (EX=0.7470/morbid/RE=mTL_miRNA); DPH2 (EX=0.7466/morbid/RE=mTL_miRNA); SLC10A7 (EX=0.7450/morbid/RE=mTL_miRNA); PHGDH (EX=0.7428/morbid/RE=mTL_miRNA); CAMK2G (EX=0.7421/morbid/RE=mTL_miRNA); CEP120 (EX=0.7420/morbid/RE=mTL_miRNA); TAF1 (EX=0.7414/morbid/RE=mTL_miRNA); ZMPSTE24 (EX=0.7414/morbid/RE=mTL_miRNA); MRAS (EX=0.7411/morbid/RE=mTL_miRNA); HGF (EX=0.7411/morbid/RE=mTL_miRNA); CHD7 (HI=3/EX=0.7411/morbid/RE=mTL_miRNA); SOS2 (EX=0.7411/morbid/RE=mTL_miRNA); NRAS (EX=0.7411/morbid/RE=mTL_miRNA); SOS1 (EX=0.7411/morbid/RE=mTL_miRNA); RRAS2 (EX=0.7411/morbid/RE=mTL_miRNA); WAC (HI=3/EX=0.7411/morbid/RE=mTL_miRNA); P4HB (EX=0.7405/morbid/RE=mTL_miRNA); CHD4 (EX=0.7395/morbid/RE=mTL_miRNA); STAMBP (EX=0.7373/morbid/RE=mTL_miRNA); COLGALT1 (EX=0.7371/morbid/RE=mTL_miRNA); SIN3A (HI=3/EX=0.7353/morbid/RE=mTL_miRNA); RHOA (EX=0.7349/morbid/RE=mTL_miRNA); KDSR (EX=0.7348/morbid/RE=mTL_miRNA); ZMIZ1 (EX=0.7343/morbid/RE=mTL_miRNA); EXT1 (HI=3/EX=0.7333/morbid/RE=mTL_miRNA); TRPS1 (HI=3/PG=A/EX=0.7333/morbid/RE=mTL_miRNA); ANKRD11 (HI=3/EX=0.7314/morbid/RE=mTL_miRNA); POC1A (EX=0.7303/morbid/RE=mTL_miRNA); LIFR (EX=0.7297/morbid/RE=mTL_miRNA); CEP55 (EX=0.7295/morbid/RE=mTL_miRNA); CAMSAP1 (EX=0.7284/morbid/RE=mTL_miRNA); DYNC2LI1 (EX=0.7277/morbid/RE=mTL_miRNA); PRKG2 (EX=0.7272/morbid/RE=mTL_miRNA); FZD2 (EX=0.7264/morbid/RE=mTL_miRNA); PKD1 (HI=3/EX=0.7262/morbid/RE=mTL_miRNA); PLXND1 (EX=0.7246/morbid/RE=mTL_miRNA); SMARCA2 (EX=0.7244/morbid/RE=mTL_miRNA); SHOC2 (EX=0.7230/morbid/RE=mTL_miRNA); LNPK (EX=0.7228/morbid/RE=mTL_miRNA); EXOSC2 (EX=0.7223/morbid/RE=mTL_miRNA); BBS1 (EX=0.7208/morbid/RE=mTL_miRNA); SETBP1 (HI=3/EX=0.7200/morbid/RE=mTL_miRNA); RLIM (EX=0.7187/morbid/RE=mTL_miRNA); CRTAP (EX=0.7184/morbid/RE=mTL_miRNA); TGFB2 (EX=0.7183/morbid/RE=mTL_miRNA); PSPH (EX=0.7182/morbid/RE=mTL_miRNA); ARID1A (HI=3/EX=0.7152/morbid/RE=mTL_miRNA); GPC4 (EX=0.7151/morbid/RE=mTL_miRNA); DNMT3B (EX=0.7134/morbid/RE=mTL_miRNA); FBXO28 (EX=0.7120/morbid/RE=mTL_miRNA); PIGO (EX=0.7118/morbid/RE=mTL_miRNA); FBXW11 (EX=0.7118/morbid/RE=mTL_miRNA); EVC (EX=0.7109/morbid/RE=mTL_miRNA); ACTB (EX=0.7062/morbid/RE=mTL_miRNA); KDM4B (EX=0.7060/morbid/RE=mTL_miRNA); ASXL1 (HI=3/EX=0.7052/morbid/RE=mTL_miRNA); UBR1 (EX=0.7045/morbid/RE=mTL_miRNA); MAPK1 (EX=0.7040/morbid/RE=mTL_miRNA); PCGF2 (EX=0.7024/morbid/RE=mTL_miRNA); PEX2 (EX=0.7009/morbid/RE=mTL_miRNA); PPP2R1A (EX=0.7005/morbid/RE=mTL_miRNA); HOXD12 (EX=1.0000/RE=mTL_miRNA); FURIN (EX=1.0000/RE=mTL_miRNA); GAS1 (EX=0.9795/RE=mTL_miRNA); RDH10 (EX=0.9739/RE=mTL_miRNA); DLX6 (EX=0.9342/RE=mTL_miRNA); SIK3 (EX=0.9139/RE=mTL_miRNA); EN1 (EX=0.8889/RE=mTL_miRNA); NUBP1 (EX=0.8850/RE=mTL_miRNA); FGFRL1 (EX=0.8816/RE=mTL_miRNA); SH2B1 (EX=0.8725/RE=mTL_miRNA); PFAS (EX=0.8586/RE=mTL_miRNA); FMN1 (EX=0.8549/RE=mTL_miRNA); EXOC8 (EX=0.8525/RE=mTL_miRNA); RXRA (EX=0.8484/RE=mTL_miRNA); CDC6 (EX=0.8416/RE=mTL_miRNA); TYRO3 (EX=0.8395/RE=mTL_miRNA); RPL10A (EX=0.8371/RE=mTL_miRNA); RREB1 (EX=0.8300/RE=mTL_miRNA); JMJD1C (EX=0.8300/RE=mTL_miRNA); COMT (EX=0.8300/RE=mTL_miRNA); SEC24C (EX=0.8300/RE=mTL_miRNA); ADAMTS5 (EX=0.8271/RE=mTL_miRNA); CDK20 (EX=0.8264/RE=mTL_miRNA); CRIM1 (EX=0.8250/RE=mTL_miRNA); DBN1 (EX=0.8212/RE=mTL_miRNA); RABL2B (EX=0.8203/RE=mTL_miRNA); RABL2A (EX=0.8203/RE=mTL_miRNA); FSTL1 (EX=0.8148/RE=mTL_miRNA); NUGGC (EX=0.8137/RE=mTL_miRNA); NGFR (EX=0.8137/RE=mTL_miRNA); PROSER2 (EX=0.8137/RE=mTL_miRNA); ZC3H8 (EX=0.8137/RE=mTL_miRNA); HUNK (EX=0.8137/RE=mTL_miRNA); CYP51A1 (EX=0.8122/RE=mTL_miRNA); PDZK1 (EX=0.8079/RE=mTL_miRNA); HS6ST1 (EX=0.8064/RE=mTL_miRNA); SMG5 (EX=0.8056/RE=mTL_miRNA); CEP97 (EX=0.8056/RE=mTL_miRNA); XPO1 (EX=0.8056/RE=mTL_miRNA); SNAI2 (EX=0.8056/RE=mTL_miRNA); GABPA (EX=0.8056/RE=mTL_miRNA); APBB2 (EX=0.8056/RE=mTL_miRNA); EIF3C (EX=0.8037/RE=mTL_miRNA); QSOX1 (EX=0.8024/RE=mTL_miRNA); PCGF3 (EX=0.7995/RE=mTL_miRNA); WNT9A (EX=0.7983/RE=mTL_miRNA); CLEC16A (EX=0.7974/RE=mTL_miRNA); DAD1 (EX=0.7941/RE=mTL_miRNA); DNAJC24 (EX=0.7941/RE=mTL_miRNA); ETV5 (EX=0.7941/RE=mTL_miRNA); HIVEP3 (EX=0.7941/RE=mTL_miRNA); XPO5 (EX=0.7940/RE=mTL_miRNA); ZC3H4 (EX=0.7940/RE=mTL_miRNA); SOCS7 (EX=0.7937/RE=mTL_miRNA); BMP7 (EX=0.7924/RE=mTL_miRNA); TMEM132A (EX=0.7917/RE=mTL_miRNA); CWC22 (EX=0.7888/RE=mTL_miRNA); SNX3 (EX=0.7883/RE=mTL_miRNA); MYO10 (EX=0.7883/RE=mTL_miRNA); PIAS2 (EX=0.7869/RE=mTL_miRNA); RAB34 (EX=0.7862/RE=mTL_miRNA); ZC3H11A (EX=0.7806/RE=mTL_miRNA); EPB41L1 (EX=0.7709/RE=mTL_miRNA); RBBP4 (EX=0.7704/RE=mTL_miRNA); RECK (EX=0.7694/RE=mTL_miRNA); LUZP1 (EX=0.7678/RE=mTL_miRNA); UBE4B (EX=0.7678/RE=mTL_miRNA); PDPN (EX=0.7678/RE=mTL_miRNA); ANXA1 (EX=0.7657/RE=mTL_miRNA); RARA (EX=0.7652/RE=mTL_miRNA); RBM22 (EX=0.7635/RE=mTL_miRNA); CASP3 (EX=0.7618/RE=mTL_miRNA); RDH11 (EX=0.7598/RE=mTL_miRNA); USF3 (EX=0.7598/RE=mTL_miRNA); GALK2 (EX=0.7536/RE=mTL_miRNA); TFPI (EX=0.7479/RE=mTL_miRNA); VEGFA (EX=0.7459/RE=mTL_miRNA); CXXC5 (EX=0.7435/RE=mTL_miRNA); SEMA3E (EX=0.7411/RE=mTL_miRNA); SFN (EX=0.7408/RE=mTL_miRNA); BTBD7 (EX=0.7381/RE=mTL_miRNA); REV3L (EX=0.7246/RE=mTL_miRNA); FIGN (EX=0.7167/RE=mTL_miRNA); PROM2 (EX=0.7139/RE=mTL_miRNA); TMEM127 (HI=3/EX=0.7085/RE=mTL_miRNA); NIPA1 (morbid/RE=mTL_miRNA); MCC (morbid/RE=mTL_miRNA); CD59 (morbid/RE=mTL_miRNA); DLG3 (morbid/RE=mTL_miRNA); PIK3CG (morbid/RE=mTL_miRNA); VPS53 (morbid/RE=mTL_miRNA); FLVCR1 (morbid/RE=mTL_miRNA); TMEM138 (morbid/RE=mTL_miRNA); CALM2 (morbid/RE=mTL_miRNA); DICER1 (HI=3/morbid/RE=mTL_miRNA); MC2R (morbid/RE=mTL_miRNA); KCNC3 (morbid/RE=mTL_miRNA); ACTN1 (morbid/RE=mTL_miRNA); PRDX3 (morbid/RE=mTL_miRNA); PDZD8 (morbid/RE=mTL_miRNA); KIAA1549 (morbid/RE=mTL_miRNA); BMPR1A (HI=3/morbid/RE=mTL_miRNA); PIKFYVE (morbid/RE=mTL_miRNA); THG1L (morbid/RE=mTL_miRNA); RORC (morbid/RE=mTL_miRNA); SPTLC2 (morbid/RE=mTL_miRNA); TRAPPC9 (morbid/RE=mTL_miRNA); HPRT1 (HI=3/morbid/RE=mTL_miRNA); SLC7A14 (morbid/RE=mTL_miRNA); WNK1 (morbid/RE=mTL_miRNA); DDX6 (morbid/RE=mTL_miRNA); HACE1 (morbid/RE=mTL_miRNA); GLRX5 (morbid/RE=mTL_miRNA); SLC31A1 (morbid/RE=mTL_miRNA); FOXP1 (HI=3/morbid/RE=mTL_miRNA); NUBPL (morbid/RE=mTL_miRNA); BAP1 (HI=3/morbid/RE=mTL_miRNA); WDR4 (morbid/RE=mTL_miRNA); ABL1 (morbid/RE=mTL_miRNA); GLUL (morbid/RE=mTL_miRNA); NEDD4L (morbid/RE=mTL_miRNA); B2M (morbid/RE=mTL_miRNA); DOCK11 (morbid/RE=mTL_miRNA); EIF2B2 (morbid/RE=mTL_miRNA); FUS (morbid/RE=mTL_miRNA); RDX (morbid/RE=mTL_miRNA); SPTAN1 (morbid/RE=mTL_miRNA); AMFR (morbid/RE=mTL_miRNA); CELF2 (morbid/RE=mTL_miRNA); FAM83H (morbid/RE=mTL_miRNA); RASA1 (HI=3/morbid/RE=mTL_miRNA); RTEL1 (morbid/RE=mTL_miRNA); KCNN3 (morbid/RE=mTL_miRNA); TBC1D20 (morbid/RE=mTL_miRNA); PTPRJ (morbid/RE=mTL_miRNA); MRE11 (morbid/RE=mTL_miRNA); ALAD (morbid/RE=mTL_miRNA); PI4KB (morbid/RE=mTL_miRNA); TTLL5 (morbid/RE=mTL_miRNA); IMPG1 (morbid/RE=mTL_miRNA); TMX2 (morbid/RE=mTL_miRNA); CACNA1C (morbid/RE=mTL_miRNA); MPC1 (morbid/RE=mTL_miRNA); ABCD1 (HI=3/morbid/RE=mTL_miRNA); CA2 (morbid/RE=mTL_miRNA); HPS1 (morbid/RE=mTL_miRNA); GABRB2 (morbid/RE=mTL_miRNA); SMPD1 (morbid/RE=mTL_miRNA); SASH1 (morbid/RE=mTL_miRNA); ELOVL5 (morbid/RE=mTL_miRNA); CLDN1 (morbid/RE=mTL_miRNA); TMEM94 (morbid/RE=mTL_miRNA); RNF168 (morbid/RE=mTL_miRNA); AIP (morbid/RE=mTL_miRNA); IL10RB (morbid/RE=mTL_miRNA); POLR1B (morbid/RE=mTL_miRNA); FLCN (HI=3/morbid/RE=mTL_miRNA); AR (HI=3/morbid/RE=mTL_miRNA); BVES (morbid/RE=mTL_miRNA); GRK1 (morbid/RE=mTL_miRNA); PQBP1 (HI=3/morbid/RE=mTL_miRNA); TBX18 (morbid/RE=mTL_miRNA); DHDDS (morbid/RE=mTL_miRNA); PTGIS (morbid/RE=mTL_miRNA); EGFR (morbid/RE=mTL_miRNA); MLH1 (HI=3/morbid/RE=mTL_miRNA); NNT (morbid/RE=mTL_miRNA); ERLIN1 (morbid/RE=mTL_miRNA); XYLT2 (morbid/RE=mTL_miRNA); FGF5 (morbid/RE=mTL_miRNA); SYNE2 (morbid/RE=mTL_miRNA); CDHR1 (morbid/RE=mTL_miRNA); NDST1 (morbid/RE=mTL_miRNA); NPRL3 (HI=3/morbid/RE=mTL_miRNA); PIGW (morbid/RE=mTL_miRNA); UROS (morbid/RE=mTL_miRNA); VPS37A (morbid/RE=mTL_miRNA); GEMIN4 (morbid/RE=mTL_miRNA); TMEM43 (morbid/RE=mTL_miRNA); NR2F2 (morbid/RE=mTL_miRNA); CASK (morbid/RE=mTL_miRNA); MAP2K2 (morbid/RE=mTL_miRNA); GNAI2 (morbid/RE=mTL_miRNA); CEP104 (morbid/RE=mTL_miRNA); PROKR2 (morbid/RE=mTL_miRNA); PLXNA1 (morbid/RE=mTL_miRNA); PTPA (morbid/RE=mTL_miRNA); MRPL44 (morbid/RE=mTL_miRNA); HCCS (morbid/RE=mTL_miRNA); CAPN15 (morbid/RE=mTL_miRNA); PSAP (morbid/RE=mTL_miRNA); TNFRSF10B (morbid/RE=mTL_miRNA); KLHL15 (morbid/RE=mTL_miRNA); KLK4 (morbid/RE=mTL_miRNA); GFER (morbid/RE=mTL_miRNA); BCKDK (morbid/RE=mTL_miRNA); SEMA6B (morbid/RE=mTL_miRNA); SF3B1 (morbid/RE=mTL_miRNA); TRMT5 (morbid/RE=mTL_miRNA); TPM2 (morbid/RE=mTL_miRNA); PRKACA (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); STX1B (morbid/RE=mTL_miRNA); COPB1 (morbid/RE=mTL_miRNA); HTR1A (morbid/RE=mTL_miRNA); DSTYK (morbid/RE=mTL_miRNA); ALDH6A1 (morbid/RE=mTL_miRNA); LIAS (morbid/RE=mTL_miRNA); CHRNB1 (morbid/RE=mTL_miRNA); C7 (morbid/RE=mTL_miRNA); KPNA3 (morbid/RE=mTL_miRNA); ARPC1B (morbid/RE=mTL_miRNA); TRIOBP (morbid/RE=mTL_miRNA); CAMK2A (morbid/RE=mTL_miRNA); TXNL4A (morbid/RE=mTL_miRNA); ARL13B (morbid/RE=mTL_miRNA); MAMLD1 (morbid/RE=mTL_miRNA); RPS17 (HI=3/morbid/RE=mTL_miRNA); MCM4 (morbid/RE=mTL_miRNA); ZFYVE27 (morbid/RE=mTL_miRNA); CTNS (morbid/RE=mTL_miRNA); CAD (morbid/RE=mTL_miRNA); MAG (morbid/RE=mTL_miRNA); RHAG (morbid/RE=mTL_miRNA); KANK2 (morbid/RE=mTL_miRNA); UQCRB (morbid/RE=mTL_miRNA); C19orf12 (morbid/RE=mTL_miRNA); TRDN (morbid/RE=mTL_miRNA); TUFT1 (morbid/RE=mTL_miRNA); GABRG2 (morbid/RE=mTL_miRNA); GLMN (HI=3/morbid/RE=mTL_miRNA); CLN6 (morbid/RE=mTL_miRNA); CNGB1 (morbid/RE=mTL_miRNA); PRKN (morbid/RE=mTL_miRNA); LIPC (morbid/RE=mTL_miRNA); PAF1 (morbid/RE=mTL_miRNA); PNPT1 (morbid/RE=mTL_miRNA); ATXN1 (morbid/RE=mTL_miRNA); PITX3 (morbid/RE=mTL_miRNA); RAI1 (HI=3/morbid/RE=mTL_miRNA); DNMT1 (morbid/RE=mTL_miRNA); NDUFA9 (morbid/RE=mTL_miRNA); DST (morbid/RE=mTL_miRNA); RPIA (morbid/RE=mTL_miRNA); MPI (morbid/RE=mTL_miRNA); ACBD5 (morbid/RE=mTL_miRNA); PLAA (morbid/RE=mTL_miRNA); PIK3C2A (morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); LRP2 (morbid/RE=mTL_miRNA); HNRNPC (morbid/RE=mTL_miRNA); SMC5 (morbid/RE=mTL_miRNA); CCDC47 (morbid/RE=mTL_miRNA); RSPO1 (morbid/RE=mTL_miRNA); AP2M1 (morbid/RE=mTL_miRNA); WDR73 (morbid/RE=mTL_miRNA); CLPB (morbid/RE=mTL_miRNA); PGAP1 (morbid/RE=mTL_miRNA); TCN2 (morbid/RE=mTL_miRNA); PTPRC (morbid/RE=mTL_miRNA); TBP (morbid/RE=mTL_miRNA); CD96 (morbid/RE=mTL_miRNA); RSPH3 (morbid/RE=mTL_miRNA); NR3C2 (HI=3/morbid/RE=mTL_miRNA); ATXN3 (morbid/RE=mTL_miRNA); PHF21A (HI=3/morbid/RE=mTL_miRNA); CEP250 (morbid/RE=mTL_miRNA); CPLX1 (morbid/RE=mTL_miRNA); STX3 (morbid/RE=mTL_miRNA); DOHH (morbid/RE=mTL_miRNA); CEP85L (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); PDP1 (morbid/RE=mTL_miRNA); IKZF5 (morbid/RE=mTL_miRNA); KIF11 (HI=3/morbid/RE=mTL_miRNA); CYP1B1 (morbid/RE=mTL_miRNA); ZFYVE26 (morbid/RE=mTL_miRNA); UBR7 (morbid/RE=mTL_miRNA); SLC27A4 (morbid/RE=mTL_miRNA); ZSWIM6 (morbid/RE=mTL_miRNA); TAB2 (morbid/RE=mTL_miRNA); ALB (morbid/RE=mTL_miRNA); STUB1 (morbid/RE=mTL_miRNA); FNIP1 (morbid/RE=mTL_miRNA); KIF23 (morbid/RE=mTL_miRNA); CTNNB1 (HI=3/morbid/RE=mTL_miRNA); MED13 (morbid/RE=mTL_miRNA); RNF170 (morbid/RE=mTL_miRNA); MCM9 (morbid/RE=mTL_miRNA); ELN (HI=3/morbid/RE=mTL_miRNA); TNPO3 (morbid/RE=mTL_miRNA); SDHAF2 (HI=3/morbid/RE=mTL_miRNA); GPR156 (morbid/RE=mTL_miRNA); ATP6V1A (morbid/RE=mTL_miRNA); FYCO1 (morbid/RE=mTL_miRNA); PPP1R15B (morbid/RE=mTL_miRNA); APC (HI=3/morbid/RE=mTL_miRNA); NACC1 (morbid/RE=mTL_miRNA); REL (morbid/RE=mTL_miRNA); ELAC2 (morbid/RE=mTL_miRNA); WRN (morbid/RE=mTL_miRNA); MYO1C (morbid/RE=mTL_miRNA); FSIP2 (morbid/RE=mTL_miRNA); GOLGA2 (morbid/RE=mTL_miRNA); SMS (HI=3/morbid/RE=mTL_miRNA); SIAH1 (morbid/RE=mTL_miRNA); PIEZO1 (morbid/RE=mTL_miRNA); ERCC6L2 (morbid/RE=mTL_miRNA); FXN (morbid/RE=mTL_miRNA); ABCB7 (morbid/RE=mTL_miRNA); ADA2 (morbid/RE=mTL_miRNA); ARF1 (morbid/RE=mTL_miRNA); ASPA (morbid/RE=mTL_miRNA); BLOC1S3 (morbid/RE=mTL_miRNA); ANGPTL3 (morbid/RE=mTL_miRNA); ATP13A2 (morbid/RE=mTL_miRNA); SYNE1 (morbid/RE=mTL_miRNA); EIF4A3 (morbid/RE=mTL_miRNA); GNB5 (morbid/RE=mTL_miRNA); DNASE2 (morbid/RE=mTL_miRNA); GNA11 (morbid/RE=mTL_miRNA); VPS4A (morbid/RE=mTL_miRNA); LAMTOR2 (morbid/RE=mTL_miRNA); MKRN3 (morbid/RE=mTL_miRNA); TACO1 (morbid/RE=mTL_miRNA); CDH2 (morbid/RE=mTL_miRNA); ALG1 (morbid/RE=mTL_miRNA); U2AF2 (morbid/RE=mTL_miRNA); CYB561 (morbid/RE=mTL_miRNA); ELOVL4 (morbid/RE=mTL_miRNA); TIA1 (morbid/RE=mTL_miRNA); RNF2 (morbid/RE=mTL_miRNA); GCDH (morbid/RE=mTL_miRNA); ELOVL1 (morbid/RE=mTL_miRNA); STIM1 (morbid/RE=mTL_miRNA); CA8 (morbid/RE=mTL_miRNA); PNP (morbid/RE=mTL_miRNA); MARVELD2 (morbid/RE=mTL_miRNA); TNRC6B (HI=3/morbid/RE=mTL_miRNA); NDUFS3 (morbid/RE=mTL_miRNA); ZNF526 (morbid/RE=mTL_miRNA); PTPN14 (morbid/RE=mTL_miRNA); LDHD (morbid/RE=mTL_miRNA); PLS1 (morbid/RE=mTL_miRNA); APTX (morbid/RE=mTL_miRNA); EIF4A2 (morbid/RE=mTL_miRNA); HEXA (morbid/RE=mTL_miRNA); CELSR1 (morbid/RE=mTL_miRNA); OAT (morbid/RE=mTL_miRNA); DNMT3A (morbid/RE=mTL_miRNA); MIB1 (morbid/RE=mTL_miRNA); SEC23A (morbid/RE=mTL_miRNA); DDR2 (morbid/RE=mTL_miRNA); PLA2G4A (morbid/RE=mTL_miRNA); UBTF (morbid/RE=mTL_miRNA); IMP3 (morbid/RE=mTL_miRNA); KCTD7 (morbid/RE=mTL_miRNA); ETV6 (HI=3/morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); SLC25A46 (morbid/RE=mTL_miRNA); PSD (morbid/RE=mTL_miRNA); REST (morbid/RE=mTL_miRNA); GPIHBP1 (morbid/RE=mTL_miRNA); AMACR (morbid/RE=mTL_miRNA); FOLR1 (morbid/RE=mTL_miRNA); TET3 (morbid/RE=mTL_miRNA); TBC1D24 (morbid/RE=mTL_miRNA); PPIP5K2 (morbid/RE=mTL_miRNA); FLG2 (morbid/RE=mTL_miRNA); USH1G (morbid/RE=mTL_miRNA); FANCA (morbid/RE=mTL_miRNA); PLEKHG5 (morbid/RE=mTL_miRNA); JPH2 (morbid/RE=mTL_miRNA); APOC3 (morbid/RE=mTL_miRNA); CD3G (morbid/RE=mTL_miRNA); XRCC2 (morbid/RE=mTL_miRNA); GAN (morbid/RE=mTL_miRNA); EZH1 (morbid/RE=mTL_miRNA); CISD2 (morbid/RE=mTL_miRNA); GCM2 (morbid/RE=mTL_miRNA); ABCC6 (morbid/RE=mTL_miRNA); EPB41 (morbid/RE=mTL_miRNA); CLEC7A (morbid/RE=mTL_miRNA); CPS1 (morbid/RE=mTL_miRNA); STARD7 (morbid/RE=mTL_miRNA); PCK1 (morbid/RE=mTL_miRNA); TCF3 (morbid/RE=mTL_miRNA); ANKRD17 (HI=3/morbid/RE=mTL_miRNA); CREB1 (morbid/RE=mTL_miRNA); FSHB (morbid/RE=mTL_miRNA); PANK2 (morbid/RE=mTL_miRNA); SASH3 (morbid/RE=mTL_miRNA); KCTD1 (morbid/RE=mTL_miRNA); JARID2 (morbid/RE=mTL_miRNA); BTD (morbid/RE=mTL_miRNA); SPRED1 (HI=3/morbid/RE=mTL_miRNA); PDHB (morbid/RE=mTL_miRNA); CTBP1 (morbid/RE=mTL_miRNA); PPFIBP1 (morbid/RE=mTL_miRNA); CASP8 (morbid/RE=mTL_miRNA); EXPH5 (morbid/RE=mTL_miRNA); GANAB (morbid/RE=mTL_miRNA); AGO1 (morbid/RE=mTL_miRNA); MYH11 (morbid/RE=mTL_miRNA); LDHA (morbid/RE=mTL_miRNA); JAK2 (morbid/RE=mTL_miRNA); ROBO4 (morbid/RE=mTL_miRNA); BCL2 (morbid/RE=mTL_miRNA); SPI1 (morbid/RE=mTL_miRNA); PRKCD (morbid/RE=mTL_miRNA); PLOD2 (morbid/RE=mTL_miRNA); RAD50 (morbid/RE=mTL_miRNA); TBX20 (morbid/RE=mTL_miRNA); ATP9A (morbid/RE=mTL_miRNA); KCNH2 (HI=3/morbid/RE=mTL_miRNA); BCL10 (morbid/RE=mTL_miRNA); ZBTB20 (morbid/RE=mTL_miRNA); TTN (HI=3/morbid/RE=mTL_miRNA); AP1S1 (morbid/RE=mTL_miRNA); SPTA1 (morbid/RE=mTL_miRNA); RAC1 (morbid/RE=mTL_miRNA); LAMC3 (morbid/RE=mTL_miRNA); GCH1 (HI=3/morbid/RE=mTL_miRNA); KCNJ6 (morbid/RE=mTL_miRNA); TENM4 (morbid/RE=mTL_miRNA); PHIP (HI=3/morbid/RE=mTL_miRNA); TUBB (morbid/RE=mTL_miRNA); TRAPPC2L (morbid/RE=mTL_miRNA); MACF1 (morbid/RE=mTL_miRNA); FARSB (morbid/RE=mTL_miRNA); NMNAT1 (morbid/RE=mTL_miRNA); ARHGDIA (morbid/RE=mTL_miRNA); TBCK (morbid/RE=mTL_miRNA); YAP1 (morbid/RE=mTL_miRNA); USP7 (morbid/RE=mTL_miRNA); STS (HI=3/morbid/RE=mTL_miRNA); PEX16 (morbid/RE=mTL_miRNA); ATP13A3 (morbid/RE=mTL_miRNA); TUBG1 (morbid/RE=mTL_miRNA); KLC2 (morbid/RE=mTL_miRNA); SPTLC1 (morbid/RE=mTL_miRNA); ACTA1 (morbid/RE=mTL_miRNA); SMAD2 (morbid/RE=mTL_miRNA); SIK1 (morbid/RE=mTL_miRNA); IVD (morbid/RE=mTL_miRNA); G6PD (morbid/RE=mTL_miRNA); VWA1 (morbid/RE=mTL_miRNA); KMT2C (HI=3/morbid/RE=mTL_miRNA); DNAJB6 (morbid/RE=mTL_miRNA); COQ7 (morbid/RE=mTL_miRNA); DBT (morbid/RE=mTL_miRNA); PRPF4 (morbid/RE=mTL_miRNA); PCSK9 (morbid/RE=mTL_miRNA); MAPK8IP3 (morbid/RE=mTL_miRNA); PRNP (morbid/RE=mTL_miRNA); MEI1 (morbid/RE=mTL_miRNA); QRSL1 (morbid/RE=mTL_miRNA); EWSR1 (morbid/RE=mTL_miRNA); WDR62 (morbid/RE=mTL_miRNA); STX11 (morbid/RE=mTL_miRNA); ALDH1A3 (morbid/RE=mTL_miRNA); TNPO2 (morbid/RE=mTL_miRNA); KCNJ10 (morbid/RE=mTL_miRNA); ITCH (morbid/RE=mTL_miRNA); IL1RAPL1 (HI=3/morbid/RE=mTL_miRNA); SLC6A17 (morbid/RE=mTL_miRNA); EIF2S3 (morbid/RE=mTL_miRNA); CTHRC1 (morbid/RE=mTL_miRNA); TPM4 (morbid/RE=mTL_miRNA); MOCS2 (morbid/RE=mTL_miRNA); TACR3 (morbid/RE=mTL_miRNA); CERKL (morbid/RE=mTL_miRNA); SMO (morbid/RE=mTL_miRNA); ACAD8 (morbid/RE=mTL_miRNA); IGSF1 (morbid/RE=mTL_miRNA); RGS9BP (morbid/RE=mTL_miRNA); ATP8A2 (morbid/RE=mTL_miRNA); CACNA1A (HI=3/morbid/RE=mTL_miRNA); KCNB1 (morbid/RE=mTL_miRNA); RPL5 (morbid/RE=mTL_miRNA); SPTBN2 (morbid/RE=mTL_miRNA); PNPO (morbid/RE=mTL_miRNA); EARS2 (morbid/RE=mTL_miRNA); THAP1 (morbid/RE=mTL_miRNA); CASP10 (morbid/RE=mTL_miRNA); RSRC1 (morbid/RE=mTL_miRNA); PANX1 (morbid/RE=mTL_miRNA); COL13A1 (morbid/RE=mTL_miRNA); AP4E1 (morbid/RE=mTL_miRNA); PLCE1 (morbid/RE=mTL_miRNA); MECP2 (HI=3/morbid/RE=mTL_miRNA); CHRM3 (morbid/RE=mTL_miRNA); VCL (morbid/RE=mTL_miRNA); CLN8 (morbid/RE=mTL_miRNA); MED12L (morbid/RE=mTL_miRNA); SLC4A1 (morbid/RE=mTL_miRNA); NTN1 (morbid/RE=mTL_miRNA); CHEK2 (HI=3/morbid/RE=mTL_miRNA); OGDH (morbid/RE=mTL_miRNA); SPAST (HI=3/morbid/RE=mTL_miRNA); SYK (morbid/RE=mTL_miRNA); CHRDL1 (HI=3/morbid/RE=mTL_miRNA); TUFM (morbid/RE=mTL_miRNA); PIGM (morbid/RE=mTL_miRNA); PDE11A (morbid/RE=mTL_miRNA); MPL (morbid/RE=mTL_miRNA); ATM (HI=3/morbid/RE=mTL_miRNA); FRMD5 (morbid/RE=mTL_miRNA); SLC35A1 (morbid/RE=mTL_miRNA); RPL13 (morbid/RE=mTL_miRNA); CNNM4 (morbid/RE=mTL_miRNA); SDHAF1 (morbid/RE=mTL_miRNA); OPA3 (morbid/RE=mTL_miRNA); MEF2C (HI=3/morbid/RE=mTL_miRNA); TMEM106B (morbid/RE=mTL_miRNA); BRD4 (morbid/RE=mTL_miRNA); TAF6 (morbid/RE=mTL_miRNA); SCNN1G (morbid/RE=mTL_miRNA); PKHD1 (morbid/RE=mTL_miRNA); ZNFX1 (morbid/RE=mTL_miRNA); GALK1 (morbid/RE=mTL_miRNA); EZH2 (morbid/RE=mTL_miRNA); FANCD2 (morbid/RE=mTL_miRNA); PEX11B (morbid/RE=mTL_miRNA); SCN11A (morbid/RE=mTL_miRNA); IREB2 (morbid/RE=mTL_miRNA); POLR3K (morbid/RE=mTL_miRNA); MSN (morbid/RE=mTL_miRNA); KCNH1 (morbid/RE=mTL_miRNA); RARB (morbid/RE=mTL_miRNA); RNF125 (morbid/RE=mTL_miRNA); SLC33A1 (morbid/RE=mTL_miRNA); TSPYL1 (morbid/RE=mTL_miRNA); CYB5A (morbid/RE=mTL_miRNA); H6PD (morbid/RE=mTL_miRNA); CCNF (morbid/RE=mTL_miRNA); CD3E (morbid/RE=mTL_miRNA); SCN3B (morbid/RE=mTL_miRNA); NDUFA11 (morbid/RE=mTL_miRNA); RBM10 (morbid/RE=mTL_miRNA); DCLRE1C (morbid/RE=mTL_miRNA); ERCC1 (morbid/RE=mTL_miRNA); PAX8 (morbid/RE=mTL_miRNA); TIMM8A (HI=3/morbid/RE=mTL_miRNA); GALNT3 (morbid/RE=mTL_miRNA); KCND3 (morbid/RE=mTL_miRNA); LRRC32 (morbid/RE=mTL_miRNA); GGCX (morbid/RE=mTL_miRNA); SFTPB (morbid/RE=mTL_miRNA); CAVIN1 (morbid/RE=mTL_miRNA); GGPS1 (morbid/RE=mTL_miRNA); ATIC (morbid/RE=mTL_miRNA); RPL3L (morbid/RE=mTL_miRNA); POLR2A (morbid/RE=mTL_miRNA); CKAP2L (morbid/RE=mTL_miRNA); SLC22A12 (morbid/RE=mTL_miRNA); FBXL3 (morbid/RE=mTL_miRNA); TAOK1 (HI=3/morbid/RE=mTL_miRNA); SAMD12 (morbid/RE=mTL_miRNA); HSPD1 (morbid/RE=mTL_miRNA); SRD5A3 (morbid/RE=mTL_miRNA); MYO3A (morbid/RE=mTL_miRNA); SPTBN1 (morbid/RE=mTL_miRNA); HAVCR2 (morbid/RE=mTL_miRNA); ZNF292 (morbid/RE=mTL_miRNA); MCFD2 (morbid/RE=mTL_miRNA); CABP4 (morbid/RE=mTL_miRNA); VANGL1 (morbid/RE=mTL_miRNA); CFAP65 (morbid/RE=mTL_miRNA); LCA5 (morbid/RE=mTL_miRNA); PJVK (morbid/RE=mTL_miRNA); IKBKG (HI=3/morbid/RE=mTL_miRNA); SASS6 (morbid/RE=mTL_miRNA); ZBTB24 (morbid/RE=mTL_miRNA); SCD (morbid/RE=mTL_miRNA); USB1 (morbid/RE=mTL_miRNA); SOX6 (morbid/RE=mTL_miRNA); ATP1A2 (morbid/RE=mTL_miRNA); DHTKD1 (morbid/RE=mTL_miRNA); C1S (morbid/RE=mTL_miRNA); STK4 (morbid/RE=mTL_miRNA); PDCD10 (morbid/RE=mTL_miRNA); XPC (morbid/RE=mTL_miRNA); MYO9A (morbid/RE=mTL_miRNA); GNB1 (morbid/RE=mTL_miRNA); PLS3 (morbid/RE=mTL_miRNA); TIAM1 (morbid/RE=mTL_miRNA); ATP1A1 (morbid/RE=mTL_miRNA); ACVR2B (morbid/RE=mTL_miRNA); TARDBP (morbid/RE=mTL_miRNA); GRIN2B (HI=3/morbid/RE=mTL_miRNA); RAB33B (morbid/RE=mTL_miRNA); CST3 (morbid/RE=mTL_miRNA); SEC61A1 (morbid/RE=mTL_miRNA); TPI1 (morbid/RE=mTL_miRNA); ADH5 (morbid/RE=mTL_miRNA); TBC1D2B (morbid/RE=mTL_miRNA); UQCRQ (morbid/RE=mTL_miRNA); POLG (morbid/RE=mTL_miRNA); BCR (morbid/RE=mTL_miRNA); MSH5 (morbid/RE=mTL_miRNA); LYRM7 (morbid/RE=mTL_miRNA); PAK1 (morbid/RE=mTL_miRNA); LAMC2 (morbid/RE=mTL_miRNA); HINT1 (morbid/RE=mTL_miRNA); EDN1 (morbid/RE=mTL_miRNA); CFL2 (morbid/RE=mTL_miRNA); FTH1 (morbid/RE=mTL_miRNA); SERPINH1 (morbid/RE=mTL_miRNA); UBA2 (morbid/RE=mTL_miRNA); SCN2B (morbid/RE=mTL_miRNA); DMGDH (morbid/RE=mTL_miRNA); MYC (morbid/RE=mTL_miRNA); PRR12 (HI=3/morbid/RE=mTL_miRNA); ATP6V1B2 (morbid/RE=mTL_miRNA); PNPLA2 (morbid/RE=mTL_miRNA); MXI1 (morbid/RE=mTL_miRNA); DNMBP (morbid/RE=mTL_miRNA); CTNNA1 (HI=3/morbid/RE=mTL_miRNA); FKRP (morbid/RE=mTL_miRNA); EXOC7 (morbid/RE=mTL_miRNA); KY (morbid/RE=mTL_miRNA); CRX (morbid/RE=mTL_miRNA); PPP2CA (morbid/RE=mTL_miRNA); ACADVL (morbid/RE=mTL_miRNA); SLC5A5 (morbid/RE=mTL_miRNA); ENTPD1 (morbid/RE=mTL_miRNA); IL21R (morbid/RE=mTL_miRNA); MBD5 (morbid/RE=mTL_miRNA); RPS14 (morbid/RE=mTL_miRNA); NEUROD1 (morbid/RE=mTL_miRNA); AMD1 (morbid/RE=mTL_miRNA); AGO2 (morbid/RE=mTL_miRNA); MAP1B (morbid/RE=mTL_miRNA); SLC16A1 (morbid/RE=mTL_miRNA); RPL21 (morbid/RE=mTL_miRNA); ATCAY (morbid/RE=mTL_miRNA); RHBDF2 (morbid/RE=mTL_miRNA); VIM (morbid/RE=mTL_miRNA); ZBTB18 (HI=3/morbid/RE=mTL_miRNA); CHMP2B (morbid/RE=mTL_miRNA); SFTPA1 (morbid/RE=mTL_miRNA); DNAL1 (morbid/RE=mTL_miRNA); CD2AP (morbid/RE=mTL_miRNA); FIG4 (morbid/RE=mTL_miRNA); ADAMTS18 (morbid/RE=mTL_miRNA); GNAI3 (morbid/RE=mTL_miRNA); TMEM218 (morbid/RE=mTL_miRNA); OXGR1 (morbid/RE=mTL_miRNA); SBF1 (morbid/RE=mTL_miRNA); PLEC (morbid/RE=mTL_miRNA); RMND1 (morbid/RE=mTL_miRNA); TMPRSS15 (morbid/RE=mTL_miRNA); TRIM71 (morbid/RE=mTL_miRNA); DEGS1 (morbid/RE=mTL_miRNA); XIAP (HI=3/morbid/RE=mTL_miRNA); TNFRSF13C (morbid/RE=mTL_miRNA); NR4A2 (HI=3/morbid/RE=mTL_miRNA); MYD88 (morbid/RE=mTL_miRNA); PIK3R2 (morbid/RE=mTL_miRNA); KCNA5 (morbid/RE=mTL_miRNA); DHODH (morbid/RE=mTL_miRNA); LFNG (morbid/RE=mTL_miRNA); ALPK3 (morbid/RE=mTL_miRNA); LMOD3 (morbid/RE=mTL_miRNA); UBE4A (morbid/RE=mTL_miRNA); ABHD12 (morbid/RE=mTL_miRNA); SPN (morbid/RE=mTL_miRNA); DNAAF5 (morbid/RE=mTL_miRNA); PGM2L1 (morbid/RE=mTL_miRNA); RIPK4 (morbid/RE=mTL_miRNA); MBOAT7 (morbid/RE=mTL_miRNA); SMARCE1 (morbid/RE=mTL_miRNA); IL17RA (morbid/RE=mTL_miRNA); RAB18 (morbid/RE=mTL_miRNA); DIAPH1 (morbid/RE=mTL_miRNA); RPSA (morbid/RE=mTL_miRNA); ATL3 (morbid/RE=mTL_miRNA); PDSS1 (morbid/RE=mTL_miRNA); IRF1 (morbid/RE=mTL_miRNA); ZBTB7A (morbid/RE=mTL_miRNA); SLC5A6 (morbid/RE=mTL_miRNA); MFSD8 (morbid/RE=mTL_miRNA); TERT (morbid/RE=mTL_miRNA); HADHA (morbid/RE=mTL_miRNA); CLDN19 (morbid/RE=mTL_miRNA); NME5 (morbid/RE=mTL_miRNA); RAD51 (morbid/RE=mTL_miRNA); COL5A1 (HI=3/morbid/RE=mTL_miRNA); MTO1 (morbid/RE=mTL_miRNA); GABRA1 (morbid/RE=mTL_miRNA); COX6B1 (morbid/RE=mTL_miRNA); GRM6 (morbid/RE=mTL_miRNA); COL6A1 (morbid/RE=mTL_miRNA); DNAJB13 (morbid/RE=mTL_miRNA); NRXN1 (HI=3/morbid/RE=mTL_miRNA); ASXL2 (morbid/RE=mTL_miRNA); CEP19 (morbid/RE=mTL_miRNA); CTC1 (morbid/RE=mTL_miRNA); SLC25A1 (morbid/RE=mTL_miRNA); ATG7 (morbid/RE=mTL_miRNA); LITAF (morbid/RE=mTL_miRNA); PHF8 (HI=3/morbid/RE=mTL_miRNA); DSG2 (morbid/RE=mTL_miRNA); CALM1 (morbid/RE=mTL_miRNA); GABRB3 (morbid/RE=mTL_miRNA); DNAAF3 (morbid/RE=mTL_miRNA); NAA10 (morbid/RE=mTL_miRNA); ELF4 (morbid/RE=mTL_miRNA); BAG5 (morbid/RE=mTL_miRNA); TNFAIP3 (morbid/RE=mTL_miRNA); HNRNPU (morbid/RE=mTL_miRNA); PDXK (morbid/RE=mTL_miRNA); NANOS1 (morbid/RE=mTL_miRNA); NUP214 (morbid/RE=mTL_miRNA); VHL (HI=3/morbid/RE=mTL_miRNA); GALC (morbid/RE=mTL_miRNA); NR3C1 (morbid/RE=mTL_miRNA); EBP (HI=3/morbid/RE=mTL_miRNA); CFAP43 (morbid/RE=mTL_miRNA); BAAT (morbid/RE=mTL_miRNA); PAX2 (HI=3/morbid/RE=mTL_miRNA); AP3B2 (morbid/RE=mTL_miRNA); MFN2 (morbid/RE=mTL_miRNA); ZNF711 (morbid/RE=mTL_miRNA); KIRREL1 (morbid/RE=mTL_miRNA); HELLS (morbid/RE=mTL_miRNA); SUZ12 (morbid/RE=mTL_miRNA); SCAF4 (morbid/RE=mTL_miRNA); CYLD (HI=3/morbid/RE=mTL_miRNA); CYP2C19 (morbid/RE=mTL_miRNA); LRP12 (morbid/RE=mTL_miRNA); PPP2R5D (morbid/RE=mTL_miRNA); STXBP2 (morbid/RE=mTL_miRNA); ISCA2 (morbid/RE=mTL_miRNA); LIPA (morbid/RE=mTL_miRNA); OTULIN (morbid/RE=mTL_miRNA); JUP (morbid/RE=mTL_miRNA); COL4A3 (morbid/RE=mTL_miRNA); REEP2 (morbid/RE=mTL_miRNA); GCK (morbid/RE=mTL_miRNA); DGKE (morbid/RE=mTL_miRNA); PEX26 (morbid/RE=mTL_miRNA); VANGL2 (morbid/RE=mTL_miRNA); TMEM126B (morbid/RE=mTL_miRNA); PEX6 (morbid/RE=mTL_miRNA); TAF8 (morbid/RE=mTL_miRNA); OGG1 (morbid/RE=mTL_miRNA); TPM3 (morbid/RE=mTL_miRNA); PLPBP (morbid/RE=mTL_miRNA); TAPBP (morbid/RE=mTL_miRNA); INF2 (morbid/RE=mTL_miRNA); NAA15 (HI=3/morbid/RE=mTL_miRNA); DPM2 (morbid/RE=mTL_miRNA); CHRNB2 (morbid/RE=mTL_miRNA); IDH3A (morbid/RE=mTL_miRNA); COCH (morbid/RE=mTL_miRNA); PRPF8 (morbid/RE=mTL_miRNA); MIEF1 (morbid/RE=mTL_miRNA); LRPAP1 (morbid/RE=mTL_miRNA); LGI3 (morbid/RE=mTL_miRNA); UNC80 (morbid/RE=mTL_miRNA); EIF2AK2 (morbid/RE=mTL_miRNA); NECTIN1 (morbid/RE=mTL_miRNA); TCF20 (HI=3/morbid/RE=mTL_miRNA); COX10 (morbid/RE=mTL_miRNA); MFF (morbid/RE=mTL_miRNA); PLEKHG2 (morbid/RE=mTL_miRNA); LHCGR (morbid/RE=mTL_miRNA); LDLR (HI=3/morbid/RE=mTL_miRNA); COL4A4 (morbid/RE=mTL_miRNA); FADS3 (morbid/RE=mTL_miRNA); LINGO1 (morbid/RE=mTL_miRNA); PHKG2 (morbid/RE=mTL_miRNA); HAX1 (morbid/RE=mTL_miRNA); RPS28 (morbid/RE=mTL_miRNA); VAPB (morbid/RE=mTL_miRNA); NLRP2 (morbid/RE=mTL_miRNA); SLC24A4 (morbid/RE=mTL_miRNA); KIF14 (morbid/RE=mTL_miRNA); TRNT1 (morbid/RE=mTL_miRNA); SLC9A3 (morbid/RE=mTL_miRNA); MTAP (morbid/RE=mTL_miRNA); MATN3 (morbid/RE=mTL_miRNA); EMC10 (morbid/RE=mTL_miRNA); SOX5 (HI=3/morbid/RE=mTL_miRNA); CTPS1 (morbid/RE=mTL_miRNA); ALG14 (morbid/RE=mTL_miRNA); SGO1 (morbid/RE=mTL_miRNA); NUMA1 (morbid/RE=mTL_miRNA); DNM2 (morbid/RE=mTL_miRNA); UFM1 (morbid/RE=mTL_miRNA); HMGCR (morbid/RE=mTL_miRNA); DYNC1H1 (morbid/RE=mTL_miRNA); PPP1R3A (morbid/RE=mTL_miRNA); VPS13A (morbid/RE=mTL_miRNA); SELENON (morbid/RE=mTL_miRNA); NFKBIA (morbid/RE=mTL_miRNA); SPOP (morbid/RE=mTL_miRNA); PDGFB (morbid/RE=mTL_miRNA); TMEM63A (morbid/RE=mTL_miRNA); CDK19 (morbid/RE=mTL_miRNA); ACOX1 (morbid/RE=mTL_miRNA); SLC19A3 (morbid/RE=mTL_miRNA); TKT (morbid/RE=mTL_miRNA); SORD (morbid/RE=mTL_miRNA); HGSNAT (morbid/RE=mTL_miRNA); RPA1 (morbid/RE=mTL_miRNA); AKT3 (morbid/RE=mTL_miRNA); CYBB (HI=3/morbid/RE=mTL_miRNA); IDH3B (morbid/RE=mTL_miRNA); PEX14 (morbid/RE=mTL_miRNA); PTRH2 (morbid/RE=mTL_miRNA); PCYT2 (morbid/RE=mTL_miRNA); ARSA (morbid/RE=mTL_miRNA); RRAGC (morbid/RE=mTL_miRNA); MAX (HI=3/morbid/RE=mTL_miRNA); AFF2 (HI=3/morbid/RE=mTL_miRNA); IFNAR1 (morbid/RE=mTL_miRNA); SNIP1 (morbid/RE=mTL_miRNA); MRPS12 (morbid/RE=mTL_miRNA); CTSA (morbid/RE=mTL_miRNA); SLX4 (morbid/RE=mTL_miRNA); ZSWIM7 (morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); KCNJ13 (morbid/RE=mTL_miRNA); VPS13B (morbid/RE=mTL_miRNA); TUBB2A (morbid/RE=mTL_miRNA); COL12A1 (morbid/RE=mTL_miRNA); SLC9A1 (morbid/RE=mTL_miRNA); SLC30A10 (morbid/RE=mTL_miRNA); SPTB (morbid/RE=mTL_miRNA); MSMO1 (morbid/RE=mTL_miRNA); VEGFC (morbid/RE=mTL_miRNA); FANCF (morbid/RE=mTL_miRNA); VMA21 (morbid/RE=mTL_miRNA); ASNS (morbid/RE=mTL_miRNA); TRMU (morbid/RE=mTL_miRNA); CCND2 (morbid/RE=mTL_miRNA); SF1 (morbid/RE=mTL_miRNA); DHCR24 (morbid/RE=mTL_miRNA); GDAP1 (morbid/RE=mTL_miRNA); GSR (morbid/RE=mTL_miRNA); PNKD (morbid/RE=mTL_miRNA); TRAPPC4 (morbid/RE=mTL_miRNA); TAL1 (morbid/RE=mTL_miRNA); MARS2 (morbid/RE=mTL_miRNA); TSEN54 (morbid/RE=mTL_miRNA); HSPA9 (morbid/RE=mTL_miRNA); AAGAB (HI=3/morbid/RE=mTL_miRNA); CALR (morbid/RE=mTL_miRNA); SLC6A8 (HI=3/morbid/RE=mTL_miRNA); BRCA1 (HI=3/morbid/RE=mTL_miRNA); KCNQ2 (HI=3/morbid/RE=mTL_miRNA); CIC (HI=3/morbid/RE=mTL_miRNA); GPRC5B (morbid/RE=mTL_miRNA); UQCRFS1 (morbid/RE=mTL_miRNA); EPHA2 (morbid/RE=mTL_miRNA); MED17 (morbid/RE=mTL_miRNA); RCBTB1 (morbid/RE=mTL_miRNA); CHEK1 (morbid/RE=mTL_miRNA); F2 (morbid/RE=mTL_miRNA); GNPAT (morbid/RE=mTL_miRNA); FBXO11 (morbid/RE=mTL_miRNA); TECPR2 (morbid/RE=mTL_miRNA); MAP2K1 (morbid/RE=mTL_miRNA); AP3B1 (morbid/RE=mTL_miRNA); ZIC2 (HI=3/morbid/RE=mTL_miRNA); NEUROG1 (morbid/RE=mTL_miRNA); RNF6 (morbid/RE=mTL_miRNA); BPTF (HI=3/morbid/RE=mTL_miRNA); EPB42 (morbid/RE=mTL_miRNA); PPP1R13L (morbid/RE=mTL_miRNA); SETD5 (HI=3/morbid/RE=mTL_miRNA); CCDC115 (morbid/RE=mTL_miRNA); CD55 (morbid/RE=mTL_miRNA); POLH (morbid/RE=mTL_miRNA); PRRT2 (HI=3/morbid/RE=mTL_miRNA); SF3B2 (morbid/RE=mTL_miRNA); MAP3K1 (morbid/RE=mTL_miRNA); PRLR (morbid/RE=mTL_miRNA); SELENOI (morbid/RE=mTL_miRNA); BAX (morbid/RE=mTL_miRNA); SLC25A15 (morbid/RE=mTL_miRNA); FN1 (morbid/RE=mTL_miRNA); SMC2 (morbid/RE=mTL_miRNA); CLPP (morbid/RE=mTL_miRNA); WNT2B (morbid/RE=mTL_miRNA); SLC25A4 (morbid/RE=mTL_miRNA); SLC25A11 (morbid/RE=mTL_miRNA); VPS13D (morbid/RE=mTL_miRNA); WASF1 (morbid/RE=mTL_miRNA); POLR3A (morbid/RE=mTL_miRNA); TUBGCP4 (morbid/RE=mTL_miRNA); ABCG8 (morbid/RE=mTL_miRNA); WT1 (HI=3/morbid/RE=mTL_miRNA); PEX10 (morbid/RE=mTL_miRNA); DDOST (morbid/RE=mTL_miRNA); PISD (morbid/RE=mTL_miRNA); UQCRC2 (morbid/RE=mTL_miRNA); BMPR2 (HI=3/morbid/RE=mTL_miRNA); NPTX1 (morbid/RE=mTL_miRNA); GSS (morbid/RE=mTL_miRNA); SH3TC2 (morbid/RE=mTL_miRNA); TOMM7 (morbid/RE=mTL_miRNA); CHD8 (HI=3/morbid/RE=mTL_miRNA); KREMEN1 (morbid/RE=mTL_miRNA); APC2 (morbid/RE=mTL_miRNA); NDUFS1 (morbid/RE=mTL_miRNA); DPM3 (morbid/RE=mTL_miRNA); SLC1A4 (morbid/RE=mTL_miRNA); XPNPEP3 (morbid/RE=mTL_miRNA); DNAJB4 (morbid/RE=mTL_miRNA); HMX1 (morbid/RE=mTL_miRNA); RFX5 (morbid/RE=mTL_miRNA); F9 (HI=3/morbid/RE=mTL_miRNA); COL27A1 (morbid/RE=mTL_miRNA); LPL (morbid/RE=mTL_miRNA); TAT (morbid/RE=mTL_miRNA); NDRG1 (morbid/RE=mTL_miRNA); BACH2 (morbid/RE=mTL_miRNA); NDUFA10 (morbid/RE=mTL_miRNA); NCDN (morbid/RE=mTL_miRNA); ABCA1 (morbid/RE=mTL_miRNA); PROK2 (morbid/RE=mTL_miRNA); CLCN3 (morbid/RE=mTL_miRNA); SERAC1 (morbid/RE=mTL_miRNA); DEPDC5 (morbid/RE=mTL_miRNA); ADAR (morbid/RE=mTL_miRNA); ESR1 (morbid/RE=mTL_miRNA); GFRA1 (morbid/RE=mTL_miRNA); CLCC1 (morbid/RE=mTL_miRNA); C3 (morbid/RE=mTL_miRNA); RORA (morbid/RE=mTL_miRNA); LMNB2 (morbid/RE=mTL_miRNA); ACAD9 (morbid/RE=mTL_miRNA); ATP6AP2 (morbid/RE=mTL_miRNA); DNAH9 (morbid/RE=mTL_miRNA); SNCB (morbid/RE=mTL_miRNA); RFT1 (morbid/RE=mTL_miRNA); WBP2 (morbid/RE=mTL_miRNA); FXR1 (morbid/RE=mTL_miRNA); TGIF1 (HI=3/morbid/RE=mTL_miRNA); RPL15 (morbid/RE=mTL_miRNA); KMT2A (HI=3/morbid/RE=mTL_miRNA); ERI1 (morbid/RE=mTL_miRNA); COL4A2 (morbid/RE=mTL_miRNA); RAB3GAP2 (morbid/RE=mTL_miRNA); XPR1 (morbid/RE=mTL_miRNA); HK1 (morbid/RE=mTL_miRNA); KIF1B (morbid/RE=mTL_miRNA); SQSTM1 (morbid/RE=mTL_miRNA); WLS (morbid/RE=mTL_miRNA); LRIG2 (morbid/RE=mTL_miRNA); USP48 (morbid/RE=mTL_miRNA); ARSK (morbid/RE=mTL_miRNA); GPSM2 (morbid/RE=mTL_miRNA); ADGRL1 (morbid/RE=mTL_miRNA); WDR1 (morbid/RE=mTL_miRNA); PPP2R1B (morbid/RE=mTL_miRNA); MALT1 (morbid/RE=mTL_miRNA); ARFGEF1 (morbid/RE=mTL_miRNA); PABPN1 (morbid/RE=mTL_miRNA); MYO6 (morbid/RE=mTL_miRNA); NAA20 (morbid/RE=mTL_miRNA); EIF2B3 (morbid/RE=mTL_miRNA); CCDC134 (morbid/RE=mTL_miRNA); MMADHC (morbid/RE=mTL_miRNA); ABHD5 (morbid/RE=mTL_miRNA); PMPCA (morbid/RE=mTL_miRNA); LAMP2 (HI=3/morbid/RE=mTL_miRNA); ZNF644 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); FKTN (morbid/RE=mTL_miRNA); SAMD9L (morbid/RE=mTL_miRNA); MDH2 (morbid/RE=mTL_miRNA); CTNND1 (morbid/RE=mTL_miRNA); ARCN1 (HI=3/morbid/RE=mTL_miRNA); TP53 (HI=3/morbid/RE=mTL_miRNA); CEP112 (morbid/RE=mTL_miRNA); PKP1 (morbid/RE=mTL_miRNA); ZFHX3 (morbid/RE=mTL_miRNA); LPP (morbid/RE=mTL_miRNA); ERBB2 (morbid/RE=mTL_miRNA); MDFIC (morbid/RE=mTL_miRNA); GDI1 (morbid/RE=mTL_miRNA); CYP11A1 (morbid/RE=mTL_miRNA); SCO1 (morbid/RE=mTL_miRNA); IBA57 (morbid/RE=mTL_miRNA); OSMR (morbid/RE=mTL_miRNA); SLC30A7 (morbid/RE=mTL_miRNA); STAT1 (morbid/RE=mTL_miRNA); DYRK1A (HI=3/morbid/RE=mTL_miRNA); EXOC2 (morbid/RE=mTL_miRNA); SIX3 (HI=3/morbid/RE=mTL_miRNA); ST14 (morbid/RE=mTL_miRNA); SMARCA4 (morbid/RE=mTL_miRNA); NSD2 (HI=3/morbid/RE=mTL_miRNA); TMEM63C (morbid/RE=mTL_miRNA); NEK9 (morbid/RE=mTL_miRNA); ING1 (morbid/RE=mTL_miRNA); TRAPPC10 (morbid/RE=mTL_miRNA); SUMF1 (morbid/RE=mTL_miRNA); ALDH1A2 (morbid/RE=mTL_miRNA); TANGO2 (morbid/RE=mTL_miRNA); ALDOA (morbid/RE=mTL_miRNA); ABCB11 (morbid/RE=mTL_miRNA); BRPF1 (HI=3/morbid/RE=mTL_miRNA); DLST (morbid/RE=mTL_miRNA); MAST1 (morbid/RE=mTL_miRNA); FANCC (morbid/RE=mTL_miRNA); MSTO1 (morbid/RE=mTL_miRNA); MYOCD (morbid/RE=mTL_miRNA); RPS19 (HI=3/morbid/RE=mTL_miRNA); CYC1 (morbid/RE=mTL_miRNA); MSH6 (HI=3/morbid/RE=mTL_miRNA); NLRP12 (morbid/RE=mTL_miRNA); FGF2 (morbid/RE=mTL_miRNA); CPT1A (morbid/RE=mTL_miRNA); FGB (morbid/RE=mTL_miRNA); UGDH (morbid/RE=mTL_miRNA); CSNK2A1 (morbid/RE=mTL_miRNA); SAG (morbid/RE=mTL_miRNA); GMPPB (morbid/RE=mTL_miRNA); EP300 (HI=3/morbid/RE=mTL_miRNA); PLAG1 (morbid/RE=mTL_miRNA); ITGA8 (morbid/RE=mTL_miRNA); JAK3 (morbid/RE=mTL_miRNA); LIG1 (morbid/RE=mTL_miRNA); CYP2B6 (morbid/RE=mTL_miRNA); P3H2 (morbid/RE=mTL_miRNA); MSL3 (HI=3/morbid/RE=mTL_miRNA); VLDLR (morbid/RE=mTL_miRNA); CLCN6 (morbid/RE=mTL_miRNA); LDLRAP1 (morbid/RE=mTL_miRNA); POMK (morbid/RE=mTL_miRNA); MFRP (morbid/RE=mTL_miRNA); SRC (morbid/RE=mTL_miRNA); RNASEH1 (morbid/RE=mTL_miRNA); TECR (morbid/RE=mTL_miRNA); GRIN2A (HI=3/morbid/RE=mTL_miRNA); NF2 (HI=3/morbid/RE=mTL_miRNA); CHD5 (morbid/RE=mTL_miRNA); PLEKHM1 (morbid/RE=mTL_miRNA); HSD3B7 (morbid/RE=mTL_miRNA); TUBB2B (morbid/RE=mTL_miRNA); UBA1 (morbid/RE=mTL_miRNA); DRG1 (morbid/RE=mTL_miRNA); UMPS (morbid/RE=mTL_miRNA); DNAH17 (morbid/RE=mTL_miRNA); CLDN10 (morbid/RE=mTL_miRNA); VPS11 (morbid/RE=mTL_miRNA); GPR143 (morbid/RE=mTL_miRNA); DLC1 (morbid/RE=mTL_miRNA); KLHL7 (morbid/RE=mTL_miRNA); SLC6A19 (morbid/RE=mTL_miRNA); MYBPC3 (HI=3/morbid/RE=mTL_miRNA); SCN9A (morbid/RE=mTL_miRNA); BPGM (morbid/RE=mTL_miRNA); SLC6A9 (morbid/RE=mTL_miRNA); DSC3 (morbid/RE=mTL_miRNA); ITGA3 (morbid/RE=mTL_miRNA); POU4F3 (HI=3/morbid/RE=mTL_miRNA); ATF6 (morbid/RE=mTL_miRNA); ASXL3 (HI=3/morbid/RE=mTL_miRNA); MYH9 (morbid/RE=mTL_miRNA); ADIPOQ (morbid/RE=mTL_miRNA); GON7 (morbid/RE=mTL_miRNA); RRM1 (morbid/RE=mTL_miRNA); HECW2 (morbid/RE=mTL_miRNA); HMOX1 (morbid/RE=mTL_miRNA); ACACA (morbid/RE=mTL_miRNA); CLDN16 (morbid/RE=mTL_miRNA); NPHP3 (morbid/RE=mTL_miRNA); PAK3 (morbid/RE=mTL_miRNA); ITGB3 (morbid/RE=mTL_miRNA); MAST3 (morbid/RE=mTL_miRNA); VPS50 (morbid/RE=mTL_miRNA); ANO3 (morbid/RE=mTL_miRNA); COL9A2 (morbid/RE=mTL_miRNA); RAB11B (morbid/RE=mTL_miRNA); HOXD10 (morbid/RE=mTL_miRNA); SRSF1 (morbid/RE=mTL_miRNA); PLCD1 (morbid/RE=mTL_miRNA); PBX1 (HI=3/morbid/RE=mTL_miRNA); TRAF7 (morbid/RE=mTL_miRNA); LRAT (morbid/RE=mTL_miRNA); THSD4 (morbid/RE=mTL_miRNA); PADI3 (morbid/RE=mTL_miRNA); PRX (morbid/RE=mTL_miRNA); RBM20 (morbid/RE=mTL_miRNA); GABRB1 (morbid/RE=mTL_miRNA); EDEM3 (morbid/RE=mTL_miRNA); IFNGR1 (morbid/RE=mTL_miRNA); NSUN3 (morbid/RE=mTL_miRNA); ANAPC1 (morbid/RE=mTL_miRNA); SMAD1 (morbid/RE=mTL_miRNA); NDUFB11 (morbid/RE=mTL_miRNA); OPTN (morbid/RE=mTL_miRNA); OCLN (morbid/RE=mTL_miRNA); ANK1 (morbid/RE=mTL_miRNA); PLCG2 (morbid/RE=mTL_miRNA); MCM3AP (morbid/RE=mTL_miRNA); KIF2A (morbid/RE=mTL_miRNA); IDS (HI=3/morbid/RE=mTL_miRNA); TTF2 (morbid/RE=mTL_miRNA); SGMS2 (morbid/RE=mTL_miRNA); MSH3 (morbid/RE=mTL_miRNA); LYST (morbid/RE=mTL_miRNA); TMEM199 (morbid/RE=mTL_miRNA); NUS1 (HI=3/morbid/RE=mTL_miRNA); RTN2 (morbid/RE=mTL_miRNA); CACNA1B (morbid/RE=mTL_miRNA); NONO (morbid/RE=mTL_miRNA); COA7 (morbid/RE=mTL_miRNA); LRPPRC (morbid/RE=mTL_miRNA); DCAF17 (morbid/RE=mTL_miRNA); MLH3 (morbid/RE=mTL_miRNA); PUS1 (morbid/RE=EA_enhancer+GH_promoter_enhancer); CCDC8 (morbid/RE=mTL_miRNA); CUBN (morbid/RE=mTL_miRNA); IL2RA (morbid/RE=mTL_miRNA); FZD4 (HI=3/morbid/RE=mTL_miRNA); NRL (morbid/RE=mTL_miRNA); DLAT (morbid/RE=mTL_miRNA); HPS4 (morbid/RE=mTL_miRNA); AGBL5 (morbid/RE=mTL_miRNA); KCNJ16 (morbid/RE=mTL_miRNA); PCBD1 (morbid/RE=mTL_miRNA); CALM3 (morbid/RE=mTL_miRNA); TUBA8 (morbid/RE=mTL_miRNA); LYN (morbid/RE=mTL_miRNA); GIPC1 (morbid/RE=mTL_miRNA); SYT2 (morbid/RE=mTL_miRNA); TSPAN12 (morbid/RE=mTL_miRNA); SPTSSA (morbid/RE=mTL_miRNA); CHMP4B (morbid/RE=mTL_miRNA); DPP9 (morbid/RE=mTL_miRNA); IGF1R (HI=3/morbid/RE=mTL_miRNA); KDM6B (morbid/RE=mTL_miRNA); POU3F3 (morbid/RE=mTL_miRNA); HIVEP2 (HI=3/morbid/RE=mTL_miRNA); TG (morbid/RE=mTL_miRNA); ZNF687 (morbid/RE=mTL_miRNA); CYCS (morbid/RE=mTL_miRNA); CPE (morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); NEK8 (morbid/RE=mTL_miRNA); FZD6 (morbid/RE=mTL_miRNA); CHD1 (morbid/RE=mTL_miRNA); TET2 (morbid/RE=mTL_miRNA); POLR1A (morbid/RE=mTL_miRNA); PRKCA (morbid/RE=mTL_miRNA); GPI (morbid/RE=mTL_miRNA); FAAH (morbid/RE=mTL_miRNA); L2HGDH (morbid/RE=mTL_miRNA); KDM5B (morbid/RE=mTL_miRNA); RBM8A (morbid/RE=mTL_miRNA); TFRC (morbid/RE=mTL_miRNA); DNAJC21 (morbid/RE=mTL_miRNA); ACTN4 (morbid/RE=mTL_miRNA); SLC22A5 (morbid/RE=mTL_miRNA); ADAM9 (morbid/RE=mTL_miRNA); TRMT10C (morbid/RE=mTL_miRNA); EIF2B4 (morbid/RE=mTL_miRNA); DRAM2 (morbid/RE=mTL_miRNA); EXOC6B (morbid/RE=mTL_miRNA); RUNX1 (HI=3/morbid/RE=mTL_miRNA); EMC1 (morbid/RE=mTL_miRNA); SLC30A2 (morbid/RE=mTL_miRNA); GPT2 (morbid/RE=mTL_miRNA); PEX7 (morbid/RE=mTL_miRNA); CAPRIN1 (morbid/RE=mTL_miRNA); EDAR (morbid/RE=mTL_miRNA); MFSD2A (morbid/RE=mTL_miRNA); BCORL1 (morbid/RE=mTL_miRNA); MATR3 (morbid/RE=mTL_miRNA); TRIM37 (morbid/RE=mTL_miRNA); APP (morbid/RE=mTL_miRNA); A4GALT (morbid/RE=mTL_miRNA); NAGS (morbid/RE=mTL_miRNA); ENG (HI=3/morbid/RE=mTL_miRNA); CD3D (morbid/RE=mTL_miRNA); PEX13 (morbid/RE=mTL_miRNA); IFNAR2 (morbid/RE=mTL_miRNA); NDUFA6 (morbid/RE=mTL_miRNA); NCAPG2 (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); TYMS (morbid/RE=mTL_miRNA); SCARB2 (morbid/RE=mTL_miRNA); SACS (morbid/RE=mTL_miRNA); WDR45B (morbid/RE=mTL_miRNA); MAK (morbid/RE=mTL_miRNA); WDR26 (HI=3/morbid/RE=mTL_miRNA); SH3BP2 (morbid/RE=mTL_miRNA); LGR4 (morbid/RE=mTL_miRNA); SMPD4 (morbid/RE=mTL_miRNA); MYH14 (morbid/RE=mTL_miRNA); AGTPBP1 (morbid/RE=mTL_miRNA); ORC1 (morbid/RE=mTL_miRNA); SVIL (morbid/RE=mTL_miRNA); LRSAM1 (morbid/RE=mTL_miRNA); GATAD2B (HI=3/morbid/RE=mTL_miRNA); GNB2 (morbid/RE=mTL_miRNA); ADCY5 (morbid/RE=mTL_miRNA); DCX (HI=3/morbid/RE=mTL_miRNA); MAGT1 (HI=3/morbid/RE=mTL_miRNA); SLC17A5 (morbid/RE=mTL_miRNA); GALM (morbid/RE=mTL_miRNA); NHLRC2 (morbid/RE=mTL_miRNA); SLC7A7 (morbid/RE=mTL_miRNA); NLGN4X (morbid/RE=mTL_miRNA); KLF6 (morbid/RE=mTL_miRNA); TBL1XR1 (HI=3/morbid/RE=mTL_miRNA); BLOC1S5 (morbid/RE=mTL_miRNA); SGCD (morbid/RE=mTL_miRNA); DDB1 (morbid/RE=mTL_miRNA); TRPM6 (morbid/RE=mTL_miRNA); FUT8 (morbid/RE=mTL_miRNA); ZMYND11 (HI=3/morbid/RE=mTL_miRNA); PFN1 (morbid/RE=mTL_miRNA); GRIK2 (morbid/RE=mTL_miRNA); UBE2A (HI=3/morbid/RE=mTL_miRNA); APOA1 (morbid/RE=mTL_miRNA); MYCN (HI=3/morbid/RE=mTL_miRNA); ATP8B1 (morbid/RE=mTL_miRNA); FXYD2 (morbid/RE=mTL_miRNA); GATM (morbid/RE=mTL_miRNA); PTCD3 (morbid/RE=mTL_miRNA); DOCK7 (morbid/RE=mTL_miRNA); POMGNT1 (morbid/RE=mTL_miRNA); TIMM50 (morbid/RE=mTL_miRNA); CDC73 (HI=3/morbid/RE=mTL_miRNA); ATN1 (morbid/RE=mTL_miRNA); IL6R (morbid/RE=mTL_miRNA); SCN1A (HI=3/morbid/RE=mTL_miRNA); BUB1 (morbid/RE=mTL_miRNA); CHAMP1 (morbid/RE=mTL_miRNA); COG4 (morbid/RE=mTL_miRNA); GALNT2 (morbid/RE=mTL_miRNA); OPHN1 (HI=3/morbid/RE=mTL_miRNA); CNBP (morbid/RE=mTL_miRNA); SRRM2 (HI=3/morbid/RE=mTL_miRNA); SMARCAD1 (morbid/RE=mTL_miRNA); BICD2 (morbid/RE=mTL_miRNA); CLMP (morbid/RE=mTL_miRNA); CLDN11 (morbid/RE=mTL_miRNA); NFASC (morbid/RE=mTL_miRNA); SYNGAP1 (HI=3/morbid/RE=mTL_miRNA); DSG1 (morbid/RE=mTL_miRNA); CLCN5 (HI=3/morbid/RE=mTL_miRNA); CNOT1 (HI=3/morbid/RE=mTL_miRNA); SMAD9 (morbid/RE=mTL_miRNA); SATB1 (morbid/RE=mTL_miRNA); RNASEH2B (morbid/RE=mTL_miRNA); MIF (morbid/RE=mTL_miRNA); ACSL6 (morbid/RE=mTL_miRNA); OCRL (HI=3/morbid/RE=mTL_miRNA); KIF1C (morbid/RE=mTL_miRNA); EMP2 (morbid/RE=mTL_miRNA); TPRKB (morbid/RE=mTL_miRNA); GNE (morbid/RE=mTL_miRNA); ZNF148 (morbid/RE=mTL_miRNA); SLC9A7 (morbid/RE=mTL_miRNA); CD36 (morbid/RE=mTL_miRNA); ADSL (morbid/RE=mTL_miRNA); SEPSECS (morbid/RE=mTL_miRNA); C12orf4 (morbid/RE=mTL_miRNA); GREM2 (morbid/RE=mTL_miRNA); WBP11 (morbid/RE=mTL_miRNA); RNF216 (morbid/RE=mTL_miRNA); NAGA (morbid/RE=mTL_miRNA); TRPM1 (morbid/RE=mTL_miRNA); LRTOMT (morbid/RE=mTL_miRNA); FANCM (morbid/RE=mTL_miRNA); BCL11A (HI=3/morbid/RE=mTL_miRNA); OGT (morbid/RE=mTL_miRNA); INTS1 (morbid/RE=mTL_miRNA); PACS2 (morbid/RE=mTL_miRNA); HCFC1 (morbid/RE=mTL_miRNA); MTHFR (morbid/RE=mTL_miRNA); GFPT1 (morbid/RE=mTL_miRNA); LPIN1 (morbid/RE=mTL_miRNA); S1PR2 (morbid/RE=mTL_miRNA); DCLRE1B (morbid/RE=mTL_miRNA); MPDU1 (morbid/RE=mTL_miRNA); GLIS2 (morbid/RE=mTL_miRNA); ALG9 (morbid/RE=mTL_miRNA); TRPC6 (morbid/RE=mTL_miRNA); TPRN (morbid/RE=mTL_miRNA); EPG5 (morbid/RE=mTL_miRNA); LIPH (morbid/RE=mTL_miRNA); TRAPPC2 (HI=3/morbid/RE=mTL_miRNA); BRIP1 (HI=3/morbid/RE=mTL_miRNA); CDKN1B (HI=3/morbid/RE=mTL_miRNA); IRF2BPL (morbid/RE=mTL_miRNA); CNGA3 (morbid/RE=mTL_miRNA); TUBB4A (morbid/RE=mTL_miRNA); USP53 (morbid/RE=mTL_miRNA); SIX5 (morbid/RE=mTL_miRNA); MECR (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=mTL_miRNA); IL7R (morbid/RE=mTL_miRNA); SSR4 (morbid/RE=mTL_miRNA); TPM1 (morbid/RE=mTL_miRNA); PURA (HI=3/morbid/RE=mTL_miRNA); CIITA (morbid/RE=mTL_miRNA); IYD (morbid/RE=mTL_miRNA); GLA (HI=3/morbid/RE=mTL_miRNA); CEP78 (morbid/RE=mTL_miRNA); TSHZ1 (morbid/RE=mTL_miRNA); MCM10 (morbid/RE=mTL_miRNA); TUBB4B (morbid/RE=mTL_miRNA); LETM1 (morbid/RE=mTL_miRNA); LTBP4 (morbid/RE=mTL_miRNA); SIX1 (morbid/RE=mTL_miRNA); B3GALNT2 (morbid/RE=mTL_miRNA); RPS24 (HI=3/morbid/RE=mTL_miRNA); NUP54 (morbid/RE=mTL_miRNA); CHST6 (morbid/RE=mTL_miRNA); SUPT16H (morbid/RE=mTL_miRNA); QDPR (morbid/RE=mTL_miRNA); SH2D1A (HI=3/morbid/RE=mTL_miRNA); CWF19L1 (morbid/RE=mTL_miRNA); VCP (morbid/RE=mTL_miRNA); MYPN (morbid/RE=mTL_miRNA); ATP7B (morbid/RE=mTL_miRNA); SLC1A2 (morbid/RE=mTL_miRNA); PIGG (morbid/RE=mTL_miRNA); LRBA (morbid/RE=mTL_miRNA); BCS1L (morbid/RE=mTL_miRNA); MET (morbid/RE=mTL_miRNA); SLC25A36 (morbid/RE=mTL_miRNA); EMD (morbid/RE=mTL_miRNA); FBXW7 (morbid/RE=mTL_miRNA); TAF13 (morbid/RE=mTL_miRNA); NUP93 (morbid/RE=mTL_miRNA); BRWD1 (morbid/RE=mTL_miRNA); IMPDH1 (morbid/RE=mTL_miRNA); NFIB (morbid/RE=mTL_miRNA); ACTC1 (morbid/RE=mTL_miRNA); NUP133 (morbid/RE=mTL_miRNA); AHCY (morbid/RE=mTL_miRNA); KLHL3 (morbid/RE=mTL_miRNA); PPIL1 (morbid/RE=mTL_miRNA); GBA2 (morbid/RE=mTL_miRNA); PRPS1 (morbid/RE=mTL_miRNA); TLR7 (morbid/RE=mTL_miRNA); ATP11A (morbid/RE=mTL_miRNA); MITF (HI=3/morbid/RE=mTL_miRNA); SET (morbid/RE=mTL_miRNA); CORO1A (morbid/RE=mTL_miRNA); NKAP (morbid/RE=mTL_miRNA); IRS4 (morbid/RE=mTL_miRNA); MTHFD1 (morbid/RE=mTL_miRNA); TRIP12 (HI=3/morbid/RE=mTL_miRNA); KIT (morbid/RE=mTL_miRNA); THOC2 (morbid/RE=mTL_miRNA); NUP62 (morbid/RE=mTL_miRNA); CDK8 (morbid/RE=mTL_miRNA); TP53RK (morbid/RE=mTL_miRNA); SAR1B (morbid/RE=mTL_miRNA); FZR1 (morbid/RE=mTL_miRNA); GOT2 (morbid/RE=mTL_miRNA); LINS1 (morbid/RE=mTL_miRNA); PAFAH1B1 (HI=3/morbid/RE=mTL_miRNA); SPPL2A (morbid/RE=mTL_miRNA); COASY (morbid/RE=mTL_miRNA); SERPING1 (morbid/RE=mTL_miRNA); BCOR (HI=3/morbid/RE=mTL_miRNA); NT5C2 (morbid/RE=mTL_miRNA); TULP1 (morbid/RE=mTL_miRNA); C1GALT1C1 (morbid/RE=mTL_miRNA); CLTC (HI=3/morbid/RE=mTL_miRNA); SOCS1 (morbid/RE=mTL_miRNA); NAF1 (morbid/RE=mTL_miRNA); CDKN2A (HI=3/RE=mTL_miRNA); WDFY3 (HI=3/RE=mTL_miRNA); NCKAP1 (HI=3/RE=mTL_miRNA); RAD51D (HI=3/RE=mTL_miRNA); PTCHD1 (HI=3/RE=mTL_miRNA);
12:100267177-100341715; 12:100357074-10042205[...]P_loss_coord : 12:100267177-100341715; 12:100357074-100422055; 12:100492477-100524210; 12:100503360-100564414; 12:101594971-101695841; 12:101728648-101739462; 12:101747145-101796782; 12:101747155-101761773; 12:101747155-101830685; 12:101756215-101830959; 12:101764193-101780631; 12:101764639-101791596; 12:101780143-101780631; 12:101780143-101830685; 12:102417491-102481839; 12:102419490-102480381; 12:102650556-111202001; 12:102840517-102851686; 12:102843646-102846950; 12:102851253-102856068; 12:102851254-102856067; 12:102852796-102877570; 12:102853828-102917244; 12:102854489-102855290; 12:102854490-102855289; 12:102854491-102855289; 12:102854492-102855289; 12:102854999-102866649; 12:102855117-102855352; 12:102855127-102855342; 12:102855175-102855352; 12:102865713-102871067; 12:102865714-102871066; 12:102866370-102868041; 12:102866371-102868040; 12:102866577-102866683; 12:102866587-102866673; 12:102866595-102866663; 12:102894726-102894931; 12:102894736-102894918; 12:102917062-102917140; 12:102917539-102921296; 12:103836685-111546997; 12:105118480-105169130; 12:105234678-112194686; 12:106105037-111815102; 12:106358110-106510198; 12:106454483-106463640; 12:108564060-108569384; 12:109098172-109110992; 12:109477634-109547829; 12:109553706-109557146; 12:109553715-109573504; 12:109561021-109565196; 12:109571640-109574910; 12:109572009-109582083; 12:109573424-109579904; 12:109573794-109598125; 12:109575979-109576165; 12:109595009-109596577; 12:109595009-109596597; 12:109792679-109819633; 12:110124357-110218793; 12:110143363-110143565; 12:110209152-110328037; 12:110281247-110351093; 12:110281791-110282795; 12:110292001-110292144; 12:110377514-110403708; 12:110383050-110391101; 12:110614404-110626361; 12:110626343-110626512; 12:110626343-110636521; 12:110626343-110642409; 12:110641950-110645110; 12:110910820-110911175; 12:110910845-110921449; 12:111100004-111350554; 12:111445028-111451623; 12:111452214-111599673; 12:111766933-111817532; 12:111842228-111902222; 12:112160195-112382431; 12:112418947-112509918; 12:112418948-112509918; 12:112471497-112477633; 12:112472925-112473060; 12:112477646-112478021; 12:112477652-112478015; 12:112682848-114924779; 12:112906962-112933219; 12:113008007-114496055; 12:113077776-114372366; 12:113392445-113403887; 12:114318753-114433403; 12:114353805-114355429; 12:114353912-114408442; 12:114353930-114408442; 12:114355513-114403918; 12:114355523-114356116; 12:114355533-114399652; 12:114385457-114385587; 12:114390253-114394865; 12:114394722-114394913; 12:114399586-114408384; 12:114401807-114401940; 12:114401817-114401930; 12:114557841-114939120; 12:114670255-114684175; 12:114670256-114684175; 12:115574474-116345711; 12:115591060-118354003; 12:115958576-116277693; 12:115958577-116277693; 12:115961247-116096772; 12:115980731-115982623; 12:115982184-116022795; 12:116005659-116019999; 12:116008504-116200640; 12:116014142-116019839; 12:116014143-116019838; 12:116018725-116050715; 12:116019419-116054358; 12:116024443-116165654; 12:116038359-116218486; 12:116043865-116131751; 12:116046436-116126238; 12:116060178-116097144; 12:116065323-116120287; 12:116085996-116143669; 12:116090710-116168006; 12:116093408-116167581; 12:116096650-116111532; 12:116096670-116111512; 12:116103618-116165654; 12:116184928-116248171; 12:116235336-116239190; 12:117208142-117361626; 12:119178931-119194746; 12:119685791-119877320; 12:120215204-120265730; 12:120438113-120440730; 12:120446444-120463749; 12:120504069-122459718; 12:120718787-127500215; 12:120725826-120740008; 12:120734963-120738432; 12:120736652-120738644; 12:120978543-121002512; 12:120978544-121002512; 12:120999281-120999453; 12:121325875-122505529; 12:121453121-122035427; 12:121471001-122459718; 12:121626530-121643109; 12:121626744-121627070; 12:121731498-128599618; 12:121804374-121832656; 12:121839527-121888611; 12:121843691-121847234; 12:121857434-121858686; 12:121917759-127802717; 12:121918592-122003919; 12:121994802-122002722; 12:122207668-122227456; 12:122252862-122266494; 12:122985203-130714574; 12:123242628-123257960; 12:123252158-123255846; 12:123252159-123255845; 12:123253675-123253956; 12:123253676-123253956; 12:123256794-123257031; 12:123394299-126344795; 12:123517315-123533719; 12:123620406-123633686; 12:123671113-123704531; 12:123679291-123699703; 12:123686945-123708399; 12:123699685-123699830; 12:123704513-123707713; 12:123704690-123708404; 12:123736186-123761755; 12:123853962-123935714; 12:124952814-124989131; 12:31086226-31104799; 12:32576257-32640543; 12:32576353-32619876; 12:32576359-32640533; 12:32576359-32896731; 12:32600488-32646050; 12:32710958-32745650; 12:32713190-32713391; 12:32746544-32755897; 12:32784036-32912520; 12:32790756-32896777; 12:32792405-32824182; 12:32792405-32896751; 12:32792415-32796308; 12:32792415-32896741; 12:32792425-32796318; 12:32796090-32796318; 12:32796090-32802576; 12:32796100-32796308; 12:32796100-32802566; 12:32796110-32802556; 12:32801396-32802409; 12:32802384-32802576; 12:32820144-32896777; 12:32824026-32824182; 12:32824036-32824172; 12:32824046-32824162; 12:32841027-32841207; 12:32841028-32841206; 12:32841028-32850974; 12:32842944-32843250; 12:32843316-32868927; 12:32850747-32850993; 12:32850757-32850983; 12:32850761-32850979; 12:32868908-32869082; 12:32868908-32879052; 12:32868918-32869072; 12:32868918-32879042; 12:32877827-32879052; 12:32877827-32896731; 12:32877837-32879042; 12:32877837-32896741; 12:32877847-32879032; 12:32878982-32880672; 12:32878983-32880671; 12:39183514-40188995; 12:39293228-39443120; 12:40713888-46551900; 12:42456757-42589746; 12:42476401-42505654; 12:42477878-42504431; 12:43514692-47706302; 12:43759207-43789541; 12:43775406-43788500; 12:43782288-43782510; 12:43783643-43786735; 12:44267367-48527421; 12:45292690-45432349; 12:45685369-45864565; 12:45690001-45750000; 12:45729706-45908037; 12:45729707-45908037; 12:45731284-45836582; 12:45747991-45982172; 12:45756226-45927887; 12:45774390-45910936; 12:45783438-45819261; 12:45813318-45848861; 12:45836590-45839496; 12:47841537-47904994; 12:47844076-47844850; 12:47972967-48006212; 12:47972968-48006212; 12:47974267-47977735; 12:47975595-47976060; 12:47975596-47976059; 12:47983546-47986867; 12:47983547-47986866; 12:47984940-47985027; 12:47984941-47985026; 12:48122647-48146404; 12:48640543-49075183; 12:48766194-48789974; 12:48904133-48921576; 12:48965340-48971735; 12:48978322-48982620; 12:49018978-49060794; 12:49018979-49060794; 12:49025252-49030913; 12:49032881-49032939; 12:49039725-49043428; 12:49040812-49045663; 12:49086656-49094801; 12:49184795-49189080; 12:49295147-49298686; 12:49950737-49958878; 12:49954146-49955618; 12:49954691-49964135; 12:49961872-49965682; 12:50085342-50100707; 12:50104008-50111313; 12:50122360-53248460; 12:50504985-50748657; 12:50633889-52851909; 12:50985992-51028886; 12:51552552-51630436; 12:51591233-51812864; 12:51662799-51688869; 12:51684155-51701227; 12:51782159-51786734; 12:51906945-51923361; 12:51912383-51923361; 12:51912456-51920913; 12:51912466-51912545; 12:51912466-51920903; 12:51912476-51914093; 12:51913080-51913790; 12:51913080-51916253; 12:51913090-51916243; 12:51913540-51919135; 12:51913955-51919135; 12:51916017-51916253; 12:51920692-51920903; 12:51920740-51920893; 12:51920740-51920913; 12:51920760-51923361; 12:51971985-51997078; 12:52274645-52309163; 12:52285913-52308624; 12:52314301-52321398; 12:52360006-52367481; 12:52446651-52452146; 12:52468516-52473805; 12:52487176-52493257; 12:52514575-52520394; 12:52565782-52573843; 12:52644558-52652211; 12:52674736-52680407; 12:52789685-52796117; 12:52806549-52814116; 12:52949118-52952906; 12:53099659-53724525; 12:53220495-53578018; 12:53224025-54222450; 12:53306794-53321761; 12:53307460-53321610; 12:53320546-53321465; 12:53326575-53344793; 12:53390915-54347579; 12:53425086-53431672; 12:53914411-53942031; 12:53938831-53946544; 12:54280726-54287087; 12:54284195-54284353; 12:54498778-54548243; 12:55684568-55716400; 12:55697675-55699446; 12:55697676-55698937; 12:55720393-55724705; 12:55835433-55842936; 12:55997276-56005525; 12:56002223-56002740; 12:56002223-56044154; 12:56031045-56051500; 12:56041918-56044697; 12:56041919-56044697; 12:56083314-56103505; 12:56171322-56189483; 12:56230717-56237846; 12:56349169-56360107; 12:56449659-56456553; 12:56670276-58920235; 12:56731580-56752323; 12:56923133-56934408; 12:57010000-57016529; 12:57013356-63042498; 12:57041159-60273934; 12:57099996-57111362; 12:57128483-57213361; 12:57188381-58638197; 12:57231475-57234935; 12:57237291-57842814; 12:57244088-57251187; 12:57460277-57472268; 12:57489491-57516652; 12:57550044-57586633; 12:57629329-57633201; 12:57762334-57767078; 12:57782787-57802856; 12:57782793-57782868; 12:57782793-57793083; 12:57791946-57793093; 12:57791956-57796593; 12:57792977-57793083; 12:57792977-57796593; 12:57802954-57818734; 12:59089723-59089722; 12:60907152-66568077; 12:63558914-63669201; 12:63595967-63596037; 12:63612272-63668493; 12:63782541-63809562; 12:64215679-69958323; 12:64452120-64502114; 12:64455872-64460349; 12:64455872-65463322; 12:64474231-64501381; 12:64481823-64486037; 12:64713449-64759406; 12:64739372-64747928; 12:64857926-74869599; 12:65169583-65248355; 12:65169584-65248355; 12:65305105-65466907; 12:65326807-65328623; 12:65445177-71026337; 12:65651866-68478563; 12:65806998-66181477; 12:65824483-65966291; 12:66347431-67069338; 12:68011418-75383054; 12:68178607-70440088; 12:68610899-68671901; 12:68687067-68702804; 12:68713730-68745809; 12:69214311-89235568; 12:69348381-69354234; 12:69690697-76671984; 12:69769738-76964217; 12:70029315-70599455; 12:70051306-71116195; 12:70181697-72950879; 12:70194956-70973089; 12:70278132-70354993; 12:70278538-70363561; 12:70337485-81761145; 12:73485698-92795805; 12:75191882-75208004; 12:75683699-80195649; 12:76344474-76348415; 12:76345804-76348368; 12:76566874-82021089; 12:77343844-93936750; 12:79045692-79452008; 12:79773568-79935460; 12:79793864-79828464; 12:79845283-79934931; 12:80217330-80380880; 12:80238803-80331073; 12:80238803-80334477; 12:80238886-80339032; 12:80278171-80336529; 12:80320403-80320720; 12:80367491-80378127; 12:80393098-81021534; 12:80444235-80680273; 12:80490010-80782131; 12:80530109-80719071; 12:80538485-80798086; 12:80669007-80669463; 12:80716912-80719671; 12:85280220-85301784; 12:86902560-89907274; 12:87983104-88507137; 12:88049185-88059040; 12:88049382-88085170; 12:88053643-88054423; 12:88058829-88101183; 12:88058839-88060030; 12:88064143-88142088; 12:88071275-88071946; 12:88077213-88079239; 12:88086020-88121186; 12:88107100-88114419; 12:88117024-88117155; 12:88118474-88125379; 12:88130289-88130341; 12:88130290-88130340; 12:88142307-88199887; 12:88492793-88580471; 12:88516335-89591295; 12:89347235-89352501; 12:89419718-89526047; 12:89421154-89421277; 12:89459619-89472295; 12:89611381-89708838; 12:90996509-94872818; 12:91050491-91058024; 12:91143277-91178646; 12:93678769-93738636; 12:93849951-93850271; 12:94368395-94460454; 12:94400831-94412490; 12:94971333-95003697; 12:98593686-98606367; 12:99772923-99782097
P_loss_source : CLN:1053674; CLN:1053684; CLN:1053685; CLN:108417; CLN:1319957; CLN:1457646; CLN:1497314; CLN:2419797; CLN:2843200; CLN:2861361; CLN:462157; CLN:511999; CLN:565438; CLN:623680; CLN:794043; CLN:964675; HI3:ACVRL1; HI3:ARID2; HI3:COL2A1; HI3:HNF1A; HI3:KMT2D; HI3:LEMD3; HI3:MED13L; HI3:PKP2; HI3:PTPN11; HI3:RPS26; HI3:TBX3; HI3:TBX5; dbVar:nssv15119635; nssv17059609; dbVar:nssv15119764; dbVar:nssv15119982; dbVar:nssv15120270; dbVar:nssv15120280; dbVar:nssv15120281; dbVar:nssv15120282; dbVar:nssv15123508; dbVar:nssv15124438; dbVar:nssv15124484; dbVar:nssv15125174; dbVar:nssv15126587; dbVar:nssv15128576; dbVar:nssv15129203; dbVar:nssv15129211; dbVar:nssv15129276; dbVar:nssv15129308; dbVar:nssv15129895; dbVar:nssv15130056; dbVar:nssv15130108; dbVar:nssv15130109; dbVar:nssv15130212; dbVar:nssv15130213; dbVar:nssv15130233; dbVar:nssv15130888; dbVar:nssv15131572; dbVar:nssv15131657; dbVar:nssv15132060; dbVar:nssv15132133; dbVar:nssv15132394; dbVar:nssv15132601; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv15133446; dbVar:nssv15134545; dbVar:nssv15135598; dbVar:nssv15136150; dbVar:nssv15136921; dbVar:nssv15137746; dbVar:nssv15138236; dbVar:nssv15138718; dbVar:nssv15139303; dbVar:nssv15139461; dbVar:nssv15140779; dbVar:nssv15143997; dbVar:nssv15144245; dbVar:nssv15144634; nssv18326715; dbVar:nssv15144750; dbVar:nssv15144775; dbVar:nssv15144825; dbVar:nssv15145687; dbVar:nssv15145689; dbVar:nssv15145770; dbVar:nssv15146017; dbVar:nssv15146019; dbVar:nssv15146233; dbVar:nssv15146234; dbVar:nssv15146235; dbVar:nssv15146438; dbVar:nssv15146750; dbVar:nssv15146766; dbVar:nssv15147135; dbVar:nssv15147301; dbVar:nssv15147333; dbVar:nssv15147576; nssv18830881; dbVar:nssv15147808; dbVar:nssv15148155; dbVar:nssv15149447; dbVar:nssv15150216; dbVar:nssv15150399; dbVar:nssv15151071; dbVar:nssv15151618; dbVar:nssv15151619; dbVar:nssv15151620; dbVar:nssv15151908; dbVar:nssv15151973; dbVar:nssv15153891; dbVar:nssv15157345; dbVar:nssv15157811; dbVar:nssv15161651; dbVar:nssv15222906; dbVar:nssv15222951; dbVar:nssv15605785; dbVar:nssv15605920; dbVar:nssv15605921; dbVar:nssv15755140; dbVar:nssv15755147; dbVar:nssv15770049; dbVar:nssv15770107; dbVar:nssv15770275; dbVar:nssv15770298; dbVar:nssv15770355; dbVar:nssv15770480; dbVar:nssv15770674; dbVar:nssv15770821; dbVar:nssv15771022; dbVar:nssv15771053; dbVar:nssv15771854; dbVar:nssv15772818; dbVar:nssv15774680; dbVar:nssv15774873; dbVar:nssv15775824; dbVar:nssv15775958; dbVar:nssv15776176; dbVar:nssv16091761; dbVar:nssv16091781; dbVar:nssv16207668; dbVar:nssv16207686; dbVar:nssv16208340; dbVar:nssv16208342; dbVar:nssv16208355; dbVar:nssv16208356; dbVar:nssv16208357; nssv16296980; dbVar:nssv16208669; dbVar:nssv16211823; dbVar:nssv16212003; dbVar:nssv16212093; dbVar:nssv16212451; dbVar:nssv16212577; dbVar:nssv16212701; dbVar:nssv16212702; dbVar:nssv16212901; dbVar:nssv16213251; dbVar:nssv16213650; dbVar:nssv16213855; dbVar:nssv16213879; dbVar:nssv16213932; dbVar:nssv16213957; dbVar:nssv16214006; dbVar:nssv16214183; dbVar:nssv16214268; dbVar:nssv16214307; dbVar:nssv16214579; dbVar:nssv16214597; dbVar:nssv16214609; dbVar:nssv16215079; dbVar:nssv16215080; dbVar:nssv16215138; dbVar:nssv16215294; dbVar:nssv16215297; dbVar:nssv16216512; dbVar:nssv16216585; dbVar:nssv16254432; dbVar:nssv16255449; dbVar:nssv16255452; dbVar:nssv16296925; dbVar:nssv16296981; dbVar:nssv16297044; dbVar:nssv16297108; dbVar:nssv16297133; dbVar:nssv16297140; dbVar:nssv16596335; nssv16596345; dbVar:nssv16866485; dbVar:nssv16867369; dbVar:nssv16867402; dbVar:nssv17059581; dbVar:nssv17059592; dbVar:nssv17059610; dbVar:nssv17171364; dbVar:nssv17171452; dbVar:nssv17171453; dbVar:nssv17171637; dbVar:nssv17171757; dbVar:nssv17171758; dbVar:nssv17171759; dbVar:nssv17171760; dbVar:nssv17171764; dbVar:nssv17171937; dbVar:nssv17172113; dbVar:nssv17172197; dbVar:nssv17172242; dbVar:nssv17172884; dbVar:nssv17173016; dbVar:nssv17517461; dbVar:nssv17517462; dbVar:nssv17649865; dbVar:nssv17649976; dbVar:nssv17955474; dbVar:nssv17955483; dbVar:nssv17955581; dbVar:nssv17955823; dbVar:nssv17955829; dbVar:nssv17955840; dbVar:nssv17955914; dbVar:nssv17956173; dbVar:nssv17956485; dbVar:nssv17956942; dbVar:nssv17957078; dbVar:nssv17957131; dbVar:nssv17968707; dbVar:nssv17968917; dbVar:nssv17968931; dbVar:nssv17968937; dbVar:nssv17968938; dbVar:nssv17968968; dbVar:nssv17968972; dbVar:nssv17969530; dbVar:nssv17969552; dbVar:nssv17969555; dbVar:nssv17969556; dbVar:nssv17969560; dbVar:nssv17970902; dbVar:nssv17970986; dbVar:nssv17971165; dbVar:nssv17971276; dbVar:nssv17971305; dbVar:nssv17971379; dbVar:nssv17971432; dbVar:nssv17971508; dbVar:nssv17971813; dbVar:nssv17972029; dbVar:nssv17972090; dbVar:nssv17972203; dbVar:nssv17972275; dbVar:nssv17972409; dbVar:nssv17972537; dbVar:nssv17972710; dbVar:nssv17972728; dbVar:nssv17972980; dbVar:nssv17973463; dbVar:nssv17973798; dbVar:nssv17973863; dbVar:nssv17974027; dbVar:nssv17974049; dbVar:nssv17974237; dbVar:nssv17974410; dbVar:nssv17975070; dbVar:nssv17975071; dbVar:nssv17975150; dbVar:nssv17975160; dbVar:nssv17976033; dbVar:nssv17976251; dbVar:nssv17976697; dbVar:nssv18326336; dbVar:nssv18326467; dbVar:nssv18326636; dbVar:nssv18330229; dbVar:nssv18330305; dbVar:nssv18786358; dbVar:nssv18786731; dbVar:nssv18786732; dbVar:nssv18786794; dbVar:nssv18786958; dbVar:nssv18787174; dbVar:nssv18787329; dbVar:nssv18787499; dbVar:nssv18787500; dbVar:nssv18787644; dbVar:nssv18787645; dbVar:nssv18787646; dbVar:nssv18787647; dbVar:nssv18787718; dbVar:nssv18787735; dbVar:nssv18787736; dbVar:nssv18787737; dbVar:nssv18787958; dbVar:nssv18787959; dbVar:nssv18788310; dbVar:nssv18788404; dbVar:nssv18788740; dbVar:nssv18788907; dbVar:nssv18789187; dbVar:nssv18789227; dbVar:nssv18789491; dbVar:nssv18789887; dbVar:nssv18789888; dbVar:nssv18789889; dbVar:nssv18789890; dbVar:nssv18790025; dbVar:nssv18790162; dbVar:nssv18790174; dbVar:nssv18790303; dbVar:nssv18790775; dbVar:nssv18790832; dbVar:nssv18790880; dbVar:nssv18790975; dbVar:nssv18790984; dbVar:nssv18791333; dbVar:nssv18791713; dbVar:nssv18791811; dbVar:nssv18791999; dbVar:nssv18792000; dbVar:nssv18792105; dbVar:nssv18792554; dbVar:nssv18792566; dbVar:nssv18792598; dbVar:nssv18792607; dbVar:nssv18792789; dbVar:nssv18792790; dbVar:nssv18792853; dbVar:nssv18792892; dbVar:nssv18830870; dbVar:nssv18830971; dbVar:nssv18841889; dbVar:nssv8639447; morbid:AAAS; morbid:ACADS; morbid:ACVR1B; morbid:ACVRL1; morbid:ADCY6; morbid:ALDH2; morbid:ALX1; morbid:AMHR2; morbid:ANAPC7; morbid:ANO6; morbid:AQP2; morbid:AQP5; morbid:ARID2; morbid:ATP2A2; morbid:ATP2B1; morbid:ATP6V0A2; morbid:ATXN2; morbid:AVIL; morbid:B4GALNT1; morbid:BBS10; morbid:CCDC65; morbid:CEP290; morbid:CEP83; morbid:CFAP251; morbid:CIT; morbid:CNOT2; morbid:COL2A1; morbid:COX6A1; morbid:CRADD; morbid:CUX2; morbid:CYP27B1; morbid:DCN; morbid:DDX11; morbid:DHH; morbid:DHX37; morbid:DIABLO; morbid:DIP2B; morbid:DNAH10; morbid:DNM1L; morbid:DPY19L2; morbid:DUSP6; morbid:EIF2B1; morbid:ERBB3; morbid:FGD4; morbid:GATC; morbid:GLI1; morbid:GNPTAB; morbid:GNS; morbid:GPD1; morbid:GRIP1; morbid:HECTD4; morbid:HMGA2; morbid:HNF1A; morbid:HNRNPA1; morbid:HOXC13; morbid:HPD; morbid:HSPB8; morbid:IFT81; morbid:IGF1; morbid:IRAK4; morbid:ISCU; morbid:ITGA7; morbid:KCNC2; morbid:KERA; morbid:KIF21A; morbid:KIF5A; morbid:KITLG; morbid:KMT2D; morbid:KRT1; morbid:KRT18; morbid:KRT2; morbid:KRT3; morbid:KRT4; morbid:KRT5; morbid:KRT6A; morbid:KRT6B; morbid:KRT6C; morbid:KRT74; morbid:KRT81; morbid:KRT83; morbid:KRT85; morbid:KRT86; morbid:LEMD3; morbid:LRP1; morbid:LYZ; morbid:MAPKAPK5; morbid:MARS1; morbid:MED13L; morbid:MIP; morbid:MMAB; morbid:MMP19; morbid:MSRB3; morbid:MTRFR; morbid:MVK; morbid:MYBPC1; morbid:MYF5; morbid:MYL2; morbid:NCKAP1L; morbid:NDUFA12; morbid:NOS1; morbid:NR1H4; morbid:NUP107; morbid:OAS1; morbid:ORAI1; morbid:OTOGL; morbid:PAH; morbid:PFKM; morbid:PKP2; morbid:POC1B; morbid:POLR3B; morbid:PPP1R12A; morbid:PRICKLE1; morbid:PRIM1; morbid:PRPH; morbid:PTPN11; morbid:PTPRQ; morbid:PXN; morbid:RAP1B; morbid:RDH5; morbid:RILPL1; morbid:RPS26; morbid:RXYLT1; morbid:SCN8A; morbid:SCYL2; morbid:SDR9C7; morbid:SDS; morbid:SETD1B; morbid:SH2B3; morbid:SHMT2; morbid:SLC11A2; morbid:SLC17A8; morbid:SLC25A3; morbid:SLC39A5; morbid:SMARCC2; morbid:SMARCD1; morbid:SP7; morbid:STAC3; morbid:STAT2; morbid:STAT6; morbid:SUOX; morbid:SYCP3; morbid:SYT1; morbid:TAC3; morbid:TBK1; morbid:TBX3; morbid:TBX5; morbid:TCTN2; morbid:TMTC3; morbid:TRPV4; morbid:TSFM; morbid:TUBA1A; morbid:UBE3B; morbid:UNG; morbid:VDR; morbid:VPS33A; morbid:WASHC4; morbid:WNT1; morbid:WNT10B; morbid:YARS2
P_loss_phen : 46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3) AR; 46XY sex reversal 7, 233420 (3) AR; 46XY sex reversal 11, 273250 (3) AD; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3) AR; ?Avascular necrosis of femoral head, primary, 2, 617383 (3) AD; Brachyolmia type 3, 113500 (3) AD; Digital arthropathy-brachydactyly, familial, 606835 (3) AD; Hereditary motor and sensory neuropathy, type IIc, 606071 (3) AD; Metatropic dysplasia, 156530 (3) AD; Neuronopathy, distal hereditary motor, AD 8, 600175 (3) AD; Parastremmatic dwarfism, 168400 (3) AD; SED, Maroteaux type, 184095 (3) AD; Scapuloperoneal spinal muscular atrophy, 181405 (3) AD; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) AD; Sodium serum level QTL 1, 613508 (3); ?Bardet-Biedl syndrome 14, 615991 (3) AR; Joubert syndrome 5, 610188 (3) AR; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3) AR; Senior-Loken syndrome 6, 610189 (3) AR; ?Ectodermal dysplasia 7, hair; nail type, 614929 (3) AR; ?Hypotrichosis 3, 613981 (3) AD; Woolly hair, AD, 194300 (3) AD; ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) AD; ?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3) AD; Achondrogenesis, type II or hypochondrogenesis, 200610 (3) AD; Avascular necrosis of the femoral head, 608805 (3) AD; Czech dysplasia, 609162 (3) AD; Kniest dysplasia, 156550 (3) AD; Legg-Calve-Perthes disease, 150600 (3) AD; Osteoarthritis with mild chondrodysplasia, 604864 (3) AD; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) AD; SED congenita, 183900 (3) AD; SMED Strudwick type, 184250 (3) AD; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) AD; Spondyloperipheral dysplasia, 271700 (3) AD; Stickler syndrome, type I, 108300 (3) AD; Stickler syndrome, type I, nonsyndromic ocular, 609508 (3) AD; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3) AD; ?Myopathy, distal, 3, 610099 (3) AD; Amyotrophic lateral sclerosis 20, 615426 (3) AD; ?Keratosis pilaris atrophicans, 604093 (3) AR; Developmental dysplasia of the hip 3, 620690 (3) AD; ?Lethal congenital contractural syndrome 2, 607598 (3) AR; Visceral neuropathy, familial, 1, AR, 243180 (3) AR; ?Erythroleukemia, familial, susceptibility to, 133180 (3) AD; ?Meckel syndrome 8, 613885 (3) AR; Joubert syndrome 24, 616654 (3) AR; ?Myoclonus, familial, 2, 618364 (3) AD; Cognitive impairment with or without cerebellar ataxia, 614306 (3) AD; Developmental and epileptic encephalopathy 13, 614558 (3) AD; Seizures, benign familial infantile, 5, 617080 (3) AD; ?Ovarian dysgenesis 6, 618078 (3) AR; Galloway-Mowat syndrome 7, 618348 (3) AR; Nephrotic syndrome, type 11, 616730 (3) AR; ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3) AR; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) AD; Interstitial lung and liver disease, 615486 (3) AR; Spastic paraplegia 70, AR, 620323 (3) AR; Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AR; Acrokeratosis verruciformis, 101900 (3) AD; Darier disease, 124200 (3) AD; Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) AR; Alcohol sensitivity, acute, 610251 (3) AD; Esophageal cancer, alcohol-related, susceptibility to (3); Hangover, susceptibility to, 610251 (3) AD; Sublingual nitroglycerin, susceptibility to poor response to (3); Amyloidosis, renal, 105200 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 105400 (3) AR,AD; Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) AR; Arrhythmogenic right ventricular dysplasia 9, 609040 (3) AD; Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3) AR; Arthrogryposis, distal, type 1B, 614335 (3) AD; Congenital myopathy 16, 618524 (3) AD; Lethal congenital contracture syndrome 4, 614915 (3) AR; Baker-Gordon syndrome, 618218 (3) AD; Bardet-Biedl syndrome 10, 615987 (3) AR; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186 (3) AD; Kabuki syndrome 1, 147920 (3) AD; Buschke-Ollendorff syndrome, 166700 (3) AD; Osteopoikilosis with or without melorheostosis, 166700 (3) AD; Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Cardiomyopathy; Cardiomyopathy, hypertrophic, 10, 608758 (3) AD; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424 (3) AR; Cardiovascular_phenotype|Arrhythmogenic_right_ventricular_dysplasia_9; Cataract 15, multiple types, 615274 (3) AD; Cavitary optic disc anomalies, 611543 (3) AD; Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) AD; Neuronopathy, distal hereditary motor, AD 2, 158590 (3) AD; Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3) AD; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and; or hypogonadotropic hypogonadism, 614381 (3) AR; Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3) AR; Charcot-Marie-Tooth disease, type 4H, 609311 (3) AR; Cholestasis, progressive familial intrahepatic, 5, 617049 (3) AR; Ciliary dyskinesia, primary, 27, 615504 (3) AR; Cirrhosis, cryptogenic, 215600 (3) AR; Cirrhosis, noncryptogenic, susceptibility to, 215600 (3) AR; Coffin-Siris syndrome 11, 618779 (3) AD; Coffin-Siris syndrome 6, 617808 (3) AD; Coffin-Siris syndrome 8, 618362 (3) AD; Combined oxidative phosphorylation deficiency 3, 610505 (3) AR; Combined oxidative phosphorylation deficiency 42, 618839 (3) AR; Combined oxidative phosphorylation deficiency 7, 613559 (3) AR; Spastic paraplegia 55, AR, 615035 (3) AR; Cone-rod dystrophy 20, 615973 (3) AR; Congenital myopathy 13, 255995 (3) AR; Cornea plana 2, AR, 217300 (3) AR; Corneal dystrophy, congenital stromal, 610048 (3) AD; Cutis laxa, AR, type IIA, 219200 (3) AR; Wrinkly skin syndrome, 278250 (3) AR; Deafness, AD 25, 605583 (3) AD; Deafness, AD 64, 614152 (3) AD; Deafness, AD 69, unilateral or asymmetric, 616697 (3) AD; Hyperpigmentation with or without hypopigmentation, 145250 (3) AD; Waardenburg syndrome, type 2F, 619947 (3) AR; Skin; hair; eye pigmentation 7, blond; brown hair, 611664 (3); Deafness, AD 73, 617663 (3) AD; Deafness, AR 84A, 613391 (3) AR; Deafness, AR 74, 613718 (3) AR; Deafness, AR 84B, 614944 (3) AR; Developmental and epileptic encephalopathy 103, 619913 (3) AD; Developmental and epileptic encephalopathy 67, 618141 (3) AD; Diabetes insipidus, nephrogenic, 2, 125800 (3) AR,AD; Diabetes mellitus, insulin-dependent, 20, 612520 (3); Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3) AD; Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 222100 (3) AR; Diabetes mellitus, noninsulin-dependent, 2, 125853 (3) AD; Diamond-Blackfan anemia 10, 613309 (3) AD; Dowling-Degos disease 1, 179850 (3) AD; Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3) AD; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3) AD; Epidermolysis bullosa simplex 2C, localized, 619594 (3) AD; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR, 619599 (3) AR; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3) AD; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3) AD; Ectodermal dysplasia 4, hair; nail type, 602032 (3) AR; Ectodermal dysplasia 9, hair; nail type, 614931 (3) AR; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) AR,AD; Optic atrophy 5, 610708 (3) AD; Epidermolytic hyperkeratosis 1, 113800 (3) AD; Ichthyosis histrix, Curth-Macklin type, 146590 (3) AD; Ichthyosis, annular epidermolytic 2, 620148 (3) AD; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 2, 620411 (3) AD; Palmoplantar keratoderma, nonepidermolytic, 600962 (3) AD; Epilepsy, progressive myoclonic 1B, 612437 (3) AR; Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3); Erythrokeratodermia variabilis et progressiva 5, 617756 (3) AR; Monilethrix, 158000 (3) AD; Ferguson-Bonni neurodevelopmental syndrome, 619699 (3) AR; Fibrosis of extraocular muscles, congenital, 1, 135700 (3) AD; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) AD; Fraser syndrome 3, 617667 (3) AR; Frontonasal dysplasia 3, 613456 (3) AR; Frontotemporal dementia and; or amyotrophic lateral sclerosis 4, 616439 (3) AD; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8, 617900 (3) AD; Fundus albipunctatus, 136880 (3) AR,AD; Genitourinary and; or; brain malformation syndrome, 618820 (3) AD; Glycogen storage disease VII, 232800 (3) AR; Hawkinsinuria, 140350 (3) AD; Tyrosinemia, type III, 276710 (3) AR; Holt-Oram syndrome, 142900 (3) AD; Hyper-IgD syndrome, 260920 (3) AR; Mevalonic aciduria, 610377 (3) AR; Porokeratosis 3, multiple types, 175900 (3) AD; Hyper-IgE syndrome 6, AD, with recurrent infections, 620532 (3) AD; Hypertriglyceridemia, transient infantile, 614480 (3) AR; Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) AR; Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3) AD; Ichthyosis bullosa of Siemens, 146800 (3) AD; Ichthyosis, congenital, AR 13, 617574 (3) AR; Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, 618042 (3) AD; Immunodeficiency 44, 616636 (3) AR; Pseudo-TORCH syndrome 3, 618886 (3) AR; Immunodeficiency 67, 607676 (3) AR; Immunodeficiency 72 with autoinflammation, 618982 (3) AR; Immunodeficiency 9, 612782 (3) AR; Myopathy, tubular aggregate, 2, 615883 (3) AD; Immunodeficiency with hyper IgM, type 5, 608106 (3) AR; Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3) AD; Inborn_genetic_diseases; Insulin-like growth factor I deficiency, 608747 (3) AR; Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD; Intellectual developmental disorder with seizures and language delay, 619000 (3) AD; Intellectual developmental disorder, AD 66, 619910 (3) AD; Intellectual developmental disorder, AD, FRA12A type, 136630 (3) AD; Intellectual developmental disorder, AR 34, with variant lissencephaly, 614499 (3) AR; Intellectual developmental disorder, AR 43, 615817 (3) AR; Kaufman oculocerebrofacial syndrome, 244450 (3) AR; LEOPARD syndrome 1, 151100 (3) AD; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3) AD; Noonan syndrome 1, 163950 (3) AD; Lethal congenital contracture syndrome 8, 616287 (3) AR; Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896 (3) AR; Lissencephaly 3, 611603 (3) AD; Lissencephaly 8, 617255 (3) AR; Meckel-Gruber_syndrome|Nephronophthisis|Familial_aplasia_of_the_vermis; Meesmann corneal dystrophy 2, 618767 (3) AD; Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3) AR; Microcephaly 17, primary, AR, 617090 (3) AR; Mitochondrial complex I deficiency, nuclear type 23, 618244 (3) AR; Mitochondrial phosphate carrier deficiency, 610773 (3) AR; Monilethrix, 158000 (3) AD; Mucolipidosis II alpha; beta, 252500 (3) AR; Mucolipidosis III alpha; beta, 252600 (3) AR; Mucopolysaccharidosis type IIID, 252940 (3) AR; Mucopolysaccharidosis-plus syndrome, 617303 (3) AR; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3) AR; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) AR; Myoclonus, intractable, neonatal, 617235 (3) AD; Spastic paraplegia 10, AD, 604187 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 25, 617921 (3) AD; Myopathy with lactic acidosis, hereditary, 255125 (3) AR; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) AR; Myopia 24, AD, 615946 (3) AD; Nephronophthisis 18, 615862 (3) AR; Nephrotic syndrome, type 21, 618594 (3) AR; Neurocardiofaciodigital syndrome, 619869 (3) AR; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3) AR; Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250 (3) AR; Neurodevelopmental_disorder; Oculopharyngodistal myopathy 4, 619790 (3) AD; Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3) AR; Osteogenesis imperfecta, type XII, 613849 (3) AR; Osteogenesis imperfecta, type XV, 615220 (3) AR; Osteoporosis, early-onset, susceptibility to, AD, 615221 (3) AD; Pachyonychia congenita 3, 615726 (3) AD; Pachyonychia congenita 4, 615728 (3) AD; Palmoplantar keratoderma, Bothnian type, 600231 (3) AD; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3) AD; Pancreatic cancer, somatic, 260350 (3); Persistent Mullerian duct syndrome, type II, 261550 (3) AR; Phenylketonuria; Phenylketonuria, 261600 (3) AR; Hyperphenylalaninemia, non-PKU mild, 261600 (3) AR; Polydactyly, postaxial, type A8, 618123 (3) AR; Polydactyly, preaxial I, 174400 (3) AR; Pregnancy loss, recurrent, 4, 270960 (3) AD; Spermatogenic failure 4, 270960 (3) AD; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005 (3) AR; Rickets, vitamin D-resistant, type IIA, 277440 (3) AR; Scott syndrome, 262890 (3) AR; Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3) AR; Silver-Russell syndrome 5, 618908 (3) AD; Spastic paraplegia 26, AR, 609195 (3) AR; Spermatogenic failure 33, 618152 (3) AR; Spermatogenic failure 56, 619515 (3) AR; Spermatogenic failure 9, 613958 (3) AR; Spinocerebellar ataxia 2, 183090 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 (3) AD; Parkinson disease, late-onset, susceptibility to, 168600 (3) Multifactorial,AD; Split-hand; foot malformation 6, 225300 (3) AR; Tooth agenesis, selective, 8, 617073 (3) AD; Stickler_syndrome_type_1; Sulfite oxidase deficiency, 272300 (3) AR; Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) AD; Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654 (3) AD; Ulnar-mammary syndrome, 181450 (3) AD; Vitamin D-dependent rickets, type I, 264700 (3) AR; Warsaw breakage syndrome, 613398 (3) AR; White sponge nevus 1, 193900 (3) AD; |Maturity_onset_diabetes_mellitus_in_young; |Phenylketonuria
P_loss_hpo : HP:0000090; HP:0001638; HP:0004748; HP:0004904
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15131918; dbVar:nssv15132729
po_P_loss_coord : 12:25263834-34064528; 12:131650543-133191400
po_P_loss_percent : 37.16; 7.21
4753P_snvindel_nb : 4753
P_snvindel_phen : 46,XY_gonadal_dysgenesis-motor_and_sensory_neuropathy_syndrome; 46,XY_sex_reversal_11; 46,XY_sex_reversal_7; 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency; ACADS-related_condition; ACVRL1-Related_Disorders; ACVRL1-related_condition; ALG9_congenital_disorder_of_glycosylation; ANO6-related_condition; ARID2-related_BAFopathy; Abnormal_bleeding; Abnormal_brain_morphology; Abnormal_brainstem_morphology; Abnormal_cardiovascular_system_morphology; Abnormal_cortical_gyration; Abnormal_facial_shape; Abnormal_pinna_morphology; Abnormality_of_metabolism/homeostasis; Abnormality_of_neuronal_migration; Abnormality_of_prenatal_development_or_birth; Abnormality_of_the_dentition; Abnormality_of_the_kidney; Abnormality_of_the_nervous_system; Abnormality_of_the_pulmonary_vasculature; Abnormality_of_the_skeletal_system; Aborted_sudden_cardiac_death; Absent_vertebral_body_mineralization; Acetabular_dysplasia; Achalasia-alacrima_syndrome; Achondrogenesis_type_II; Acrokeratosis_verruciformis_of_Hopf; Acute_myeloid_leukemia; Amyotrophic_lateral_sclerosis; Amyotrophic_lateral_sclerosis,_susceptibility_to,_25; Annular_epidermolytic_ichthyosis; Anomalous_origin_of_coronary_artery_from_the_pulmonary_artery; Aortic_valve_disease_2; Arrhythmogenic_right_ventricular_cardiomyopathy; Arrhythmogenic_right_ventricular_dysplasia_1; Arrhythmogenic_right_ventricular_dysplasia_9; Arrhythmogenic_ventricular_cardiomyopathy; Arthrogryposis_multiplex_congenita_4,_neurogenic,_with_agenesis_of_the_corpus_callosum; Asphyxiating_thoracic_dystrophy_3; Astrocytoma; Atrial_septal_defect,_ostium_secundum_type; Atrophy/Degeneration_affecting_the_central_nervous_system; Autism; Autism_spectrum_disorder; Autoinflammatory_syndrome; Autosomal_dominant_Parkinson_disease_8; Autosomal_dominant_rhegmatogenous_retinal_detachment; Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D; Autosomal_recessive_nonsyndromic_hearing_loss_74; Autosomal_recessive_nonsyndromic_hearing_loss_84A; Autosomal_recessive_nonsyndromic_hearing_loss_84B; Avascular_necrosis_of_femoral_head,_primary,_1; Avascular_necrosis_of_femoral_head,_primary,_2; B-cell_chronic_lymphocytic_leukemia; BBS10-related_condition; B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype; Babinski_sign; Bailey-Bloch_congenital_myopathy; Bardet-Biedl_syndrome; Bardet-Biedl_syndrome_1; Bardet-Biedl_syndrome_10; Bardet-Biedl_syndrome_14; Bardet-biedl_syndrome_1/10,_digenic; Bardet-biedl_syndrome_6/10,_digenic; Beaded_hair; Bifid_uvula; Blepharophimosis_-_intellectual_disability_syndrome; Blindness; Bone_marrow_hypocellularity; Brachycephaly; Brachyrachia_(short_spine_dysplasia); Bullous_ichthyosiform_erythroderma; CBL-related_disorder; CEP290-Related_Disorders; CEP290-related_ciliopathy; CEP290-related_condition; CFAP251-related_condition; CHARGE_association; COG7_congenital_disorder_of_glycosylation; COGNITIVE_IMPAIRMENT_WITHOUT_CEREBELLAR_ATAXIA; COL2A1-related_condition; COL2A1-related_disorders; COL2A1-related_skeletal_dysplasia; CUX2-related_condition; Cafe-au-lait_spot; Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Cardiac_arrhythmia; Cardiomyopathy; Cardiomyopathy,_mitochondrial; Cardiomyopathy-hypotonia-lactic_acidosis_syndrome; Cardiovascular_phenotype; Cataract_15_multiple_types; Cavernous_sinus_meningioma; Central_hypotonia; Cerebellar_cyst; Cerebellar_vermis_hypoplasia; Cerebral_arteriovenous_malformation; Cerebral_palsy; Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I; Charcot-Marie-Tooth_disease_axonal_type_2C; Charcot-Marie-Tooth_disease_axonal_type_2L; Charcot-Marie-Tooth_disease_axonal_type_2U; Charcot-Marie-Tooth_disease_recessive_intermediate_D; Charcot-Marie-Tooth_disease_type_4; Charcot-Marie-Tooth_disease_type_4H; Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome; Cholestasis,_progressive_familial_intrahepatic,_5; Clear_cell_carcinoma_of_kidney; Clinodactyly; Clinodactyly_of_the_5th_finger; Clubfoot; Coffin-Siris_syndrome_11; Coffin-Siris_syndrome_6; Coffin-Siris_syndrome_8; Cognitive_impairment_with_or_without_cerebellar_ataxia; Combined_immunodeficiency_due_to_ORAI1_deficiency; Combined_oxidative_phosphorylation_defect_type_7; Combined_oxidative_phosphorylation_deficiency_42; Complement_component_C1s_deficiency; Compton-North_congenital_myopathy; Cone-rod_dystrophy; Cone-rod_dystrophy_20; Congenital_bilateral_perisylvian_syndrome; Congenital_blindness; Congenital_fibrosis_of_extraocular_muscles; Congenital_fibrosis_of_extraocular_muscles_type_1; Congenital_ichthyosis_of_skin; Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency; Congenital_stationary_night_blindness; Connective_tissue_disorder; Cornea_plana_2; Corpus_callosum,_agenesis_of; Cough; Cryptorchidism; Cutis_laxa; Cutis_laxa_with_osteodystrophy; Cystic_renal_dysplasia; Czech_dysplasia,_metatarsal_type; Dandy-Walker_syndrome; Darier_disease,_acral_hemorrhagic_type; Darier_disease,_segmental; Death_in_early_adulthood; Decreased_head_circumference; Deficiency_of_butyryl-CoA_dehydrogenase; Delayed_early-childhood_social_milestone_development; Delayed_speech_and_language_development; Depressed_nasal_ridge; Dermatofibrosis_lenticularis_disseminata; Dermatofibrosis_lenticularis_disseminata,_isolated; Desmoplastic/nodular_medulloblastoma; Developmental_and_epileptic_encephalopathy,_13; Developmental_and_epileptic_encephalopathy,_67; Developmental_cataract; DiGeorge_syndrome; Diabetes_insipidus,_nephrogenic,_autosomal; Diabetes_mellitus; Diabetes_mellitus_type_1; Diamond-Blackfan_anemia; Diamond-Blackfan_anemia_10; Diamond-Blackfan_anemia_15_with_mandibulofacial_dysostosis; Diffuse_nonepidermolytic_palmoplantar_keratoderma; Distal_spinal_muscular_atrophy; Dowling-Degos_disease_1; Dysplastic_pulmonary_valve; Dystonic_disorder; EMG_abnormality; Early_T_cell_progenitor_acute_lymphoblastic_leukemia; Early_infantile_epileptic_encephalopathy_with_suppression_bursts; Early_onset_focal_segmental_glomerulosclerosis; Encephalocele; Encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_8; Encephalopathy,_lethal,_due_to_defective_mitochondrial_peroxisomal_fission_1; Epicanthus; Epidermolysis_bullosa; Epidermolysis_bullosa_simplex; Epidermolysis_bullosa_simplex,_Koebner_type; Epidermolysis_bullosa_simplex_1A,_generalized_severe; Epidermolysis_bullosa_simplex_1C,_localized; Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive; Epidermolysis_bullosa_simplex_2A,_generalized_severe; Epidermolysis_bullosa_simplex_2B,_generalized_intermediate; Epidermolysis_bullosa_simplex_2C,_localized; Epidermolysis_bullosa_simplex_with_migratory_circinate_erythema; Epidermolysis_bullosa_simplex_with_mottled_pigmentation; Epidermolytic_hyperkeratosis_1; Epidermolytic_palmoplantar_keratoderma; Epilepsy; Epilepsy,_progressive_myoclonic,_1B; Epileptic_encephalopathy; Epistaxis; Exfoliative_ichthyosis; Failure_to_thrive; Familial_aplasia_of_the_vermis; Familial_digital_arthropathy-brachydactyly; Familial_isolated_arrhythmogenic_right_ventricular_dysplasia; Familial_melanoma; Familial_visceral_amyloidosis,_Ostertag_type; Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3; Fibrosis_of_extraocular_muscles,_congenital,_3b; Foot_polydactyly; Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4; Fundus_albipunctatus,_autosomal_recessive; GNPTAB-Related_Disorders; GNPTAB-related_disorder; Galloway-Mowat_syndrome_7; Genitourinary_and/or_brain_malformation_syndrome; Global_developmental_delay; Glucocorticoid_deficiency_with_achalasia; Glycogen_storage_disease; Glycogen_storage_disease,_type_VII; HNF1A-related_condition; Hawkinsinuria; Hearing_impairment; Heart,_malformation_of; Hepatic_adenomas,_familial; Hereditary_cancer-predisposing_syndrome; Hereditary_motor_neuron_disease; Hereditary_myopathy_with_lactic_acidosis_due_to_ISCU_deficiency; Hereditary_spastic_paraplegia; Hereditary_spastic_paraplegia_10; Hereditary_spastic_paraplegia_26; Hereditary_spastic_paraplegia_55; Herpes_simplex_encephalitis,_susceptibility_to,_1; High-frequency_hearing_impairment; High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6; Holt-Oram_syndrome; Hyper-IgM_syndrome_type_5; Hyperechogenic_kidneys; Hyperimmunoglobulin_D_with_periodic_fever; Hyperinsulinism_due_to_HNF1A_deficiency; Hypermetabolism_due_to_Defect_in_Mitochondrial_Coupling; Hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation_2; Hyperphenylalaninemia; Hyperreflexia; Hypertrophic_cardiomyopathy; Hypertrophic_cardiomyopathy_10; Hypogonadotropic_hypogonadism; Hypogonadotropic_hypogonadism_19_with_or_without_anosmia; Hypogonadotropic_hypogonadism_7_with_or_without_anosmia; Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism; Hypotonia; IRAK4-related_condition; Ichthyosis,_annular_epidermolytic,_2; Ichthyosis,_congenital,_autosomal_recessive_13; Ichthyosis_bullosa_of_Siemens; Ichthyosis_hystrix_of_Curth-Macklin; Immunodeficiency_67; Impaired_vibration_sensation_in_the_lower_limbs; Inborn_genetic_diseases; Infantile_hypotonia-oculomotor_anomalies-hyperkinetic_movements-developmental_delay_syndrome; Intellectual_developmental_disorder,_autosomal_dominant_66; Intellectual_developmental_disorder_with_seizures_and_language_delay; Intellectual_disability; Intellectual_disability,_FRA12A_type; Intellectual_disability,_autosomal_recessive_34; Intellectual_disability,_mild; Jeune_thoracic_dystrophy; Joubert_syndrome_1; Joubert_syndrome_13; Joubert_syndrome_24; Joubert_syndrome_5; Joubert_syndrome_and_related_disorders; Juvenile_myelomonocytic_leukemia; Juvenile_osteochondrosis_of_spine; KIF21A-related_condition; KIF5A-Related_Disorders; KIF5A-related_condition; KMT2D-related_condition; KMT2D-related_disorders; KRT1-related_condition; KRT5-related_condition; Kabuki-like_syndrome; Kabuki_syndrome; Kabuki_syndrome_1; Keratosis_follicularis; Keratosis_palmoplantaris_striata_3; Kidney_disorder; Kniest_dysplasia; Kyphosis; LEMD3-related_condition; LEOPARD_syndrome_1; LRRK2-related_condition; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Left_ventricular_noncompaction_cardiomyopathy; Legg-Calve-Perthes_disease; Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome; Light_complexion; Lissencephaly; Lissencephaly_8; Lissencephaly_due_to_TUBA1A_mutation; Lissencephaly_type_3; Long_ear; Long_neck; Loss_of_ambulation; Lower_limb_amyotrophy; Lung_adenocarcinoma; Lung_cancer; Lymphoma; MED13L-Related_Disorder; MED13L-related_neurodevelopmental_disorder; MIP-related_condition; MMAB-related_condition; MVK-Related_Disorders; MVK-related_condition; MYBPC1-related_condition; MYL2-related_condition; Macular_degeneration; Male_pseudohermaphroditism; Malignant_melanoma_of_skin; Marfanoid_habitus_and_intellectual_disability; Maturity-onset_diabetes_of_the_young_type_3; Maturity_onset_diabetes_mellitus_in_young; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Meckel_syndrome,_type_6; Meckel_syndrome,_type_8; Melanoma; Melanoma,_cutaneous_malignant,_susceptibility_to,_3; Melorheostosis_with_osteopoikilosis; Metachondromatosis; Metatropic_dysplasia; Methylmalonic_acidemia; Methylmalonic_aciduria,_cblB_type; Mevalonic_aciduria; Microcephaly; Microcephaly_17,_primary,_autosomal_recessive; Microcephaly_24,_primary,_autosomal_recessive; Microcytic_anemia_with_liver_iron_overload; Micrognathia; Mitochondrial_complex_1_deficiency,_nuclear_type_23; Mitral_regurgitation; Molar_tooth_sign_on_MRI; Monogenic_diabetes; Motor_delay; Motor_neuron_disease; Mucolipidosis; Mucolipidosis_type_II; Mucopolysaccharidosis,_MPS-III-A; Mucopolysaccharidosis,_MPS-III-D; Multiple_epiphyseal_dysplasia,_Beighton_type; Multiple_myeloma; Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10; Myoclonus,_intractable,_neonatal; Myopathy,_congenital,_with_tremor; Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_2; Myopathy,_myofibrillar,_12,_infantile-onset,_with_cardiomyopathy; Myopathy,_tubular_aggregate,_2; Myopia; Namaqualand_hip_dysplasia; Neoplasm_of_brain; Neoplasm_of_the_large_intestine; Nephrogenic_diabetes_insipidus; Nephronophthisis; Nephronophthisis_18; Nephrotic_syndrome,_type_11; Neuroblastoma; Neurocardiofaciodigital_syndrome; Neurodevelopmental_abnormality; Neurodevelopmental_delay; Neurodevelopmental_disorder; Neurodevelopmental_disorder_with_seizures,_spasticity,_and_complete_or_partial_agenesis_of_the_corpus_callosum; Neuromuscular_disease; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8; Neuronopathy,_distal_hereditary_motor,_type_2A; Night_blindness; Non-immune_hydrops_fetalis; Nonpapillary_renal_cell_carcinoma; Noonan_syndrome; Noonan_syndrome_1; Noonan_syndrome_3; Noonan_syndrome_and_Noonan-related_syndrome; Noonan_syndrome_with_multiple_lentigines; Nystagmus; Obesity; Occipital_encephalocele; Oculocerebrofacial_syndrome,_Kaufman_type; Optic_atrophy_5; Osteogenesis_imperfecta; Osteogenesis_imperfecta_type_15; Osteoporosis; Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant; Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive; PAH-related_condition; PKP2-related_condition; POLR3-related_leukodystrophy; POLR3B-related_condition; PPP1R12A-related_condition; PTPN11-related_condition; PTPN11-related_disorder; PTPN11_Related_Disorders; Pachyonychia_congenita_3; Pachyonychia_congenita_4; Pain; Palmoplantar_keratoderma,_Bothnian_type; Palmoplantar_keratoderma,_epidermolytic,_2; Palmoplantar_keratoderma,_nonepidermolytic,_focal_or_diffuse; Parastremmatic_dwarfism; Parkinson_disease,_late-onset; Patent_ductus_arteriosus; Pectus_excavatum; Persistent_Mullerian_duct_syndrome; Persistent_hyperplastic_primary_vitreous; Persistent_mullerian_duct_syndrome,_type_II; Pes_cavus; Pes_planus; Phenylketonuria; Pigmentary_retinal_dystrophy; Platyspondylic_dysplasia,_Torrance_type; Pol_III-related_leukodystrophy; Polycystic_kidney_disease; Polydactyly,_postaxial,_type_A8; Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis; Porokeratosis_3,_disseminated_superficial_actinic_type; Postaxial_hand_polydactyly; Primary_ciliary_dyskinesia; Primary_ciliary_dyskinesia_27; Primary_dilated_cardiomyopathy; Primary_familial_hypertrophic_cardiomyopathy; Primary_familial_polycythemia_due_to_EPO_receptor_mutation; Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection; Primary_open_angle_glaucoma; Progressive_familial_intrahepatic_cholestasis_type_1; Proportionate_short_stature; Pseudo-Hurler_polydystrophy; Ptosis; Pulmonary_arterial_hypertension; Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia; Pulmonary_hypertension,_primary,_1; RASopathy; RDH5-related_condition; Rare_genetic_deafness; Rare_genetic_intellectual_disability; Reduced_phenylalanine_hydroxylase_level; Renal_dysplasia_and_retinal_aplasia; Retinal_dystrophy; Retinitis_pigmentosa; Retinitis_punctata_albescens; Rhabdomyolysis; Right_ventricular_hypertrophy; Rod-cone_dystrophy; SCN8A-related_disorder; SCOTT_SYNDROME; SDR9C7-related_condition; SHORT-RIB_THORACIC_DYSPLASIA_19_WITHOUT_POLYDACTYLY; SMARCC2-related_BAFopathy; SUOX-related_condition; SYT1-associated_neurodevelopmental_disorder; Scapuloperoneal_spinal_muscular_atrophy; Scoliosis; See_cases; Seizure; Seizures,_benign_familial_infantile,_5; Self-injurious_behavior; Senior-Loken_syndrome_6; Severe_hydrocephalus; Short-rib_thoracic_dysplasia_19_with_or_without_polydactyly; Short_ribs; Short_stature; Silver-Russell_syndrome_1; Silver-Russell_syndrome_5; Skeletal_dysplasia; Skeletal_dysplasia_and_progressive_central_nervous_system_degeneration,_lethal; Smith-Magenis_Syndrome-like; Sodium_serum_level_quantitative_trait_locus_1; Spastic_ataxia; Spastic_paraparesis; Spastic_paraplegia; Specific_learning_disability; Spermatogenic_failure_9; Split_hand-foot_malformation_6; Spondyloepimetaphyseal_dysplasia,_Maroteaux_type; Spondyloepimetaphyseal_dysplasia,_Strudwick_type; Spondyloepiphyseal_dysplasia,_Stanescu_type; Spondyloepiphyseal_dysplasia_congenita; Spondylometaphyseal_dysplasia; Spondylometaphyseal_dysplasia,_Kozlowski_type; Spondylometaphyseal_dysplasia_-_Sutcliffe_type; Spondyloperipheral_dysplasia; Squamous_cell_lung_carcinoma; Stargardt_disease; Stickler_syndrome,_type_I,_nonsyndromic_ocular; Stickler_syndrome_type_1; Strabismus; Sudden_unexplained_death; Sulfite_oxidase_deficiency; Sulfocysteinuria; Syndromic_intellectual_disability; TBK1-related_condition; TBX3-related_condition; TBX5-related_condition; TCTN2-Related_Disorders; TRPV4-Associated_Disorders; TRPV4-related_bone_disorder; TRPV4-related_condition; TRPV4-related_disorders; TUBA1A-associated_tubulinopathy; TUBA1A-related_condition; Telangiectasia,_hereditary_hemorrhagic,_type_1; Telangiectasia,_hereditary_hemorrhagic,_type_2; Thrombocythemia_1; Thrombocytopenia; Transient_infantile_hypertriglyceridemia_and_hepatosteatosis; Transposition_of_the_great_arteries,_dextro-looped; Tricuspid_regurgitation; Tubulinopathy; Tubulinopathy-associated_dysgyria; Type_1_diabetes_mellitus_20; Type_2_collagenopathy; Type_2_diabetes_mellitus; Type_II_Collagenopathies; Typical_Joubert_syndrome_MRI_findings; Tyrosinemia_type_III; Ulnar-mammary_syndrome; Unsteady_gait; Vein_of_Galen_aneurysmal_malformation; Ventricular_septal_defect; Ventricular_tachycardia; Vesicoureteral_reflux; Visceral_neuropathy,_familial,_1,_autosomal_recessive; Vitamin_D-dependent_rickets,_type_1; Vitamin_D-dependent_rickets,_type_1A; Vitamin_D-dependent_rickets_type_II_with_alopecia; Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia; Walker-Warburg_congenital_muscular_dystrophy; Warsaw_breakage_syndrome; West_syndrome; Wide_nasal_bridge; Wrinkly_skin_syndrome; Young-onset_Parkinson_disease; developmental_delay_with_seizures; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr12:30802976-30802996 HPRC:pbsv.DEL.2460; chr12:30830721-30830745 HPRC:pbsv.DEL.2463; 12:30854798-30855788 DDD:38249; chr12:30869853-30870164 gnomAD-SV_v3_DEL_chr12_4251b664; 12:30869916-30870201 IMH; chr12:30869959-30870172 HPRC:pbsv.DEL.2465; chr12:30871879-30871962 dbVar; chr12:30886968-30887446 dbVar; chr12:30945116-30958397 dbVar; chr12:30957761-30957837 HPRC:pbsv.DEL.2468; chr12:30959884-30962316 dbVar; 12:30959900-30962285 DDD:38250; chr12:30967178-30967795 dbVar; 12:30999497-31000043 DDD:38254; chr12:30999498-31000043 dbVar; chr12:30999499-31000105 dbVar; 12:30999500-31000105 esv3629032; chr12:31006967-31007130 dbVar; chr12:31012712-31015720 dbVar; chr12:31038557-31040199 dbVar; chr12:31042270-31042331 dbVar...
po_B_loss_someG_coord : chr12:30796639-30797335 dbVar; chr12:30812833-30812855 HPRC:pbsv.DEL.2462; chr12:30854797-30855787 dbVar; chr12:30854808-30855772 dbVar; 12:30869889-30869967 IMH; chr12:30869946-30869970 HPRC:pbsv.DEL.2464; 12:30869963-30870172 CMRI:2_pbsv.DEL.629_duplicate4; chr12:30877424-30880137 dbVar; chr12:30894335-30898406 dbVar; 12:30957717-30957789 CMRI:2_pbsv.DEL.630_duplicate3; chr12:30959193-30962804 dbVar; 12:30959885-30962316 1000g; chr12:30959900-30962285 dbVar; chr12:30967678-30967716 HPRC:pbsv.DEL.2469; 12:30999497-31000043 esv2678496; chr12:30999498-31000043 gnomAD-SV_v3_DEL_chr12_2863dd5c; 12:30999500-31000105 1000g; chr12:30999988-31000052 dbVar; chr12:31008708-31013547 dbVar; chr12:31031606-31031632 HPRC:pbsv.DEL.2473; 12:31038572-31040212 DDD:38255...
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:30793734-30794029
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:131761758-131761873
Repeat_type_right : MIR1_Amn
Gap_right : .
GC_content_right : 0.475
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
COL2A1Gene_name : COL2A1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : 0
DDD_HI_percent : 2.04
ACMG : .
ExAC_cnvZ : -0.0881279906236847
ExAC_delZ : 1.29911408889276
ExAC_dupZ : -0.658944375337057
ExAC_synZ : -1.29910404940144
ExAC_misZ : 2.97438369244767
GenCC_disease : Czech dysplasia, metatarsal type; Kniest dysplasia; Legg-Calve-Perthes disease; Stickler syndrome type 1; Stickler syndrome, type I, nonsyndromic ocular; achondrogenesis type II; autosomal dominant rhegmatogenous retinal detachment; avascular necrosis of femoral head, primary, 1; dysspondyloenchondromatosis; familial avascular necrosis of femoral head; hypochondrogenesis; mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis; multiple epiphyseal dysplasia, Beighton type; otospondylomegaepiphyseal dysplasia; otospondylomegaepiphyseal dysplasia, autosomal recessive; platyspondylic dysplasia, Torrance type; spondyloepimetaphyseal dysplasia, Strudwick type; spondyloepiphyseal dysplasia congenita; spondyloepiphyseal dysplasia, Stanescu type; spondylometaphyseal dysplasia; spondylometaphyseal dysplasia, Schmidt type; spondyloperipheral dysplasia; vitreoretinopathy with phalangeal epiphyseal dysplasia
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 10406661; 10406661[PMID]_15895462[PMID]; 10729292; 10745044; 10797431; 10797431[PMID]; 11708863; 11771668; 11812423; 12205109; 12544472; 12917109; 12968670; 132450; 1374906; 1429602; 14729840; 15054848; 150600; 15076581; 15316962; 15316962[PMID]_23545312[PMID]; 15643621[PMID]; 15671297; 15671297[PMID]; 15895462; 15930420; 15930420[PMID]; 16088915; 16189708; 16752401; 17347327; 17394019; 17394019[PMID]_18512791[PMID]; 17509551; 17721977; 17726487; 17726487[PMID]; 18276201; 18553548; 1975693; 1975693[PMID]; 19764028; 20179744; 20204389; 20513134; 21442341; 21472893; 21671384; 21922596; 21924244; 22028304; 22496037; 22570642[PMID]_26250472[PMID]; 2300123; 2339128; 23448908; 23653587[PMID]; 24949742; 25050885; 25060605; 2543071; 25604898; 2572591; 25735649; 25967556; 26030151; 26030151[PMID]; 26183434[PMID]; 26358419; 26443184; 26626311; 27059630; 27390512; 28018693; 28095098; 28983407; 29453956; 29750297; 30541462; 31755234; 3195588; 35907616; 48380664; 7550321; 7550321[PMID]; 7741714; 7757081; 7757086; 7829510; 7849719; 7874117; 7981752; 8024616; 8129781; 8244341; 8325895; 8423604; 8486375; 8723097; 8723098; 8893763; 9314159; 9468540; 9800905; 9800905[PMID]; 9915573; NULL
NCBI_gene_ID : 1280
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_017018828
Tx_version : 1
Tx_start : 47972966
Tx_end : 48006212
Exon_count : 56
Overlapped_tx_length : 33246
Overlapped_CDS_length : 4608
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47972966
Intersect_end : 48006212
120140; OMIM_ID : 120140;
OMIM_phenotype : ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) AD;
?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3) AD;
Achondrogenesis, type II or hypochondrogenesis, 200610 (3) AD;
Avascular necrosis of the femoral head, 608805 (3) AD;
Czech dysplasia, 609162 (3) AD;
Kniest dysplasia, 156550 (3) AD;
Legg-Calve-Perthes disease, 150600 (3) AD;
Osteoarthritis with mild chondrodysplasia, 604864 (3) AD;
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) AD;
SED congenita, 183900 (3) AD;
SMED Strudwick type, 184250 (3) AD;
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) AD;
Spondyloperipheral dysplasia, 271700 (3) AD;
Stickler syndrome, type I, 108300 (3) AD;
Stickler syndrome, type I, nonsyndromic ocular, 609508 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.9820Exomiser_gene_pheno_score : 0.9820
Human_pheno_evidence : Brachydactyly; Platyspondylic skeletal dysplasia, Torrance type
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal chondrocyte physiology; brachydactyly
Fish_pheno_evidence : Craniosynostosis; vertebra fused with vertebra, abnormal
APhenoGenius_specificity : A
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 1.85
.RE_gene : .
12:47972967-48006212; 12:47972968-48006212; 1[...]P_loss_coord : 12:47972967-48006212; 12:47972968-48006212; 12:47974267-47977735; 12:47975595-47976060; 12:47975596-47976059; 12:47983546-47986867; 12:47983547-47986866; 12:47984940-47985027; 12:47984941-47985026
P_loss_source : CLN:1457646; CLN:2419797; CLN:511999; HI3:COL2A1; dbVar:nssv15131572; dbVar:nssv17971508; dbVar:nssv17975071; dbVar:nssv18792566; morbid:COL2A1
P_loss_phen : ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) AD; ?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3) AD; Achondrogenesis, type II or hypochondrogenesis, 200610 (3) AD; Avascular necrosis of the femoral head, 608805 (3) AD; Czech dysplasia, 609162 (3) AD; Kniest dysplasia, 156550 (3) AD; Legg-Calve-Perthes disease, 150600 (3) AD; Osteoarthritis with mild chondrodysplasia, 604864 (3) AD; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) AD; SED congenita, 183900 (3) AD; SMED Strudwick type, 184250 (3) AD; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) AD; Spondyloperipheral dysplasia, 271700 (3) AD; Stickler syndrome, type I, 108300 (3) AD; Stickler syndrome, type I, nonsyndromic ocular, 609508 (3) AD; Inborn_genetic_diseases; Stickler_syndrome_type_1
P_loss_hpo : .
458P_snvindel_nb : 458
P_snvindel_phen : Abnormality_of_the_skeletal_system; Absent_vertebral_body_mineralization; Acetabular_dysplasia; Achondrogenesis_type_II; Autosomal_dominant_rhegmatogenous_retinal_detachment; Avascular_necrosis_of_femoral_head,_primary,_1; COL2A1-related_condition; COL2A1-related_disorders; COL2A1-related_skeletal_dysplasia; Connective_tissue_disorder; Czech_dysplasia,_metatarsal_type; Heart,_malformation_of; Inborn_genetic_diseases; Kniest_dysplasia; Legg-Calve-Perthes_disease; Micrognathia; Multiple_epiphyseal_dysplasia,_Beighton_type; Myopia; Namaqualand_hip_dysplasia; Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant; Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive; Platyspondylic_dysplasia,_Torrance_type; Retinal_dystrophy; See_cases; Short_ribs; Skeletal_dysplasia; Spondyloepimetaphyseal_dysplasia,_Strudwick_type; Spondyloepiphyseal_dysplasia,_Stanescu_type; Spondyloepiphyseal_dysplasia_congenita; Spondylometaphyseal_dysplasia; Spondylometaphyseal_dysplasia_-_Sutcliffe_type; Spondyloperipheral_dysplasia; Stargardt_disease; Stickler_syndrome,_type_I,_nonsyndromic_ocular; Stickler_syndrome_type_1; Type_2_collagenopathy; Type_II_Collagenopathies; Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBX5Gene_name : TBX5;
LOEUF_bin : 0
GnomAD_pLI : 9.9954e-01
ExAC_pLI : 9.9188e-01
HI : 3
TS : 0
DDD_HI_percent : 1.67
ACMG : .
ExAC_cnvZ : 0.978219184986827
ExAC_delZ : 0.854164823695449
ExAC_dupZ : 0.731254388334815
ExAC_synZ : -0.479555179405314
ExAC_misZ : 1.80496983562237
GenCC_disease : Holt-Oram syndrome; heart conduction disease
GenCC_moi : AD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 16183809; 16917909; 19648116; 20301290[PMID]; 20519243; 25963046
NCBI_gene_ID : 6910
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : 5'UTR-3'UTR
Tx : XM_017019912
Tx_version : 2
Tx_start : 114353910
Tx_end : 114408012
Exon_count : 9
Overlapped_tx_length : 54102
Overlapped_CDS_length : 1605
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114353910
Intersect_end : 114408012
601620; OMIM_ID : 601620;
OMIM_phenotype : Holt-Oram syndrome, 142900 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8413Exomiser_gene_pheno_score : 0.8413
Human_pheno_evidence : Brachydactyly; Holt-Oram syndrome; Short digit
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal carpal bone morphology; abnormal phalanx morphology
Fish_pheno_evidence : Craniosynostosis; head shape, abnormal
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.13
.RE_gene : .
12:114355513-114403918; 12:114355523-11435611[...]P_loss_coord : 12:114355513-114403918; 12:114355523-114356116; 12:114355533-114399652; 12:114385457-114385587; 12:114390253-114394865; 12:114394722-114394913; 12:114401807-114401940; 12:114401817-114401930
P_loss_source : dbVar:nssv15130888; dbVar:nssv15134545; dbVar:nssv15770480; dbVar:nssv15770821; dbVar:nssv16213650; dbVar:nssv17171937; dbVar:nssv17971379; dbVar:nssv18787174
P_loss_phen : .
P_loss_hpo : .
90P_snvindel_nb : 90
P_snvindel_phen : Aortic_valve_disease_2; Atrial_septal_defect,_ostium_secundum_type; Cardiovascular_phenotype; Heart,_malformation_of; Holt-Oram_syndrome; Inborn_genetic_diseases; Left_ventricular_noncompaction_cardiomyopathy; Mitral_regurgitation; TBX5-related_condition; Ventricular_septal_defect
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARID2Gene_name : ARID2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : 0
DDD_HI_percent : 11.02
ACMG : .
ExAC_cnvZ : 1.48526735037295
ExAC_delZ : 1.0355415259147
ExAC_dupZ : 1.26051600508561
ExAC_synZ : -1.81429651156784
ExAC_misZ : 2.08993988612612
GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 6
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 25299188; 26238514; 28124119; 28124119[PMID]; 29698805; 30838730
NCBI_gene_ID : 196528
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_152641
Tx_version : 4
Tx_start : 45729705
Tx_end : 45908037
Exon_count : 21
Overlapped_tx_length : 178332
Overlapped_CDS_length : 5508
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45729705
Intersect_end : 45908037
609539; OMIM_ID : 609539;
OMIM_phenotype : Coffin-Siris syndrome 6, 617808 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8310Exomiser_gene_pheno_score : 0.8310
Human_pheno_evidence : Brachydactyly; Coffin-Siris syndrome 6; Craniosynostosis; Wormian bones
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.23
.RE_gene : .
12:45729706-45908037; 12:45729707-45908037; 1[...]P_loss_coord : 12:45729706-45908037; 12:45729707-45908037; 12:45731284-45836582; 12:45783438-45819261; 12:45813318-45848861; 12:45836590-45839496
P_loss_source : HI3:ARID2; dbVar:nssv16297044; dbVar:nssv17955474; dbVar:nssv17969530; dbVar:nssv18326336; morbid:ARID2
P_loss_phen : Coffin-Siris syndrome 6, 617808 (3) AD
P_loss_hpo : .
48P_snvindel_nb : 48
P_snvindel_phen : ARID2-related_BAFopathy; Coffin-Siris_syndrome_6; Desmoplastic/nodular_medulloblastoma; Inborn_genetic_diseases; Neurodevelopmental_disorder
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBX3Gene_name : TBX3;
LOEUF_bin : 1
GnomAD_pLI : 9.8907e-01
ExAC_pLI : 9.4893e-01
HI : 3
TS : 0
DDD_HI_percent : 3.05
ACMG : .
ExAC_cnvZ : 1.02303138199542
ExAC_delZ : 0.563545573961496
ExAC_dupZ : 0.891147243122436
ExAC_synZ : 1.91565956480439
ExAC_misZ : 3.18673780484533
GenCC_disease : heart conduction disease; ulnar-mammary syndrome
GenCC_moi : AD
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 10330342; 12116211; 12668170; 16896345; 19938096; 19938096[PMID]_10330342[PMID]_12668170[PMID]; 25328580; 28145909; 9207801
NCBI_gene_ID : 6926
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : 5'UTR-3'UTR
Tx : NM_016569
Tx_version : 4
Tx_start : 114670254
Tx_end : 114684175
Exon_count : 8
Overlapped_tx_length : 13921
Overlapped_CDS_length : 2232
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114670254
Intersect_end : 114684175
601621; OMIM_ID : 601621;
OMIM_phenotype : Ulnar-mammary syndrome, 181450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8599Exomiser_gene_pheno_score : 0.8599
Human_pheno_evidence : Brachydactyly; Short 5th toe; Ulnar-mammary syndrome
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal digit morphology; absent tarsus bones
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.09
.RE_gene : .
12:114670255-114684175; 12:114670256-114684175P_loss_coord : 12:114670255-114684175; 12:114670256-114684175
P_loss_source : HI3:TBX3; morbid:TBX3
P_loss_phen : Ulnar-mammary syndrome, 181450 (3) AD
P_loss_hpo : .
8P_snvindel_nb : 8
P_snvindel_phen : Inborn_genetic_diseases; TBX3-related_condition; Ulnar-mammary_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PTPN11Gene_name : PTPN11;
LOEUF_bin : 0
GnomAD_pLI : 9.9998e-01
ExAC_pLI : 9.9988e-01
HI : 3
TS : 0
DDD_HI_percent : 1.58
ACMG : .
ExAC_cnvZ : 1.19001116371122
ExAC_delZ : 1.0748392429843
ExAC_dupZ : 0.893780996520254
ExAC_synZ : 0.978517385283562
ExAC_misZ : 3.42454966552757
GenCC_disease : Costello syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1; Noonan syndrome and Noonan-related syndrome; Noonan syndrome with multiple lentigines; cardiofaciocutaneous syndrome; metachondromatosis
GenCC_moi : AD
GenCC_classification : Definitive; Disputed Evidence; Strong; Supportive
GenCC_pmid : 11704759; 11992261; 12058348; 12161469; 12161596; 12325025; 12529711; 12634870; 14974085; 15121796; 15240615; 15384080; 15520399; 15521065; 16263833; 16358218; 16377799; 16733669; 17497712; 17603483; 17697839; 17875892; 17927788; 18348260; 18678287; 19054014; 19449407; 19659470; 19760651; 19760651[PMID]; 19768645; 19864201; 20301557[PMID]; 20577567; 21269411; 21365175; 21533187; 21533187[PMID]; 21677813; 21747628; 21910226; 22822385; 23312968; 23799168; 24739123; 24790373; 24820750; 24935154; 25884655; 25917897; 25974318; 26377839; 27484170; 30681346; 33354767
NCBI_gene_ID : 5781
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001330437
Tx_version : 2
Tx_start : 112418946
Tx_end : 112509918
Exon_count : 16
Overlapped_tx_length : 90972
Overlapped_CDS_length : 1794
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112418946
Intersect_end : 112509918
176876; OMIM_ID : 176876;
OMIM_phenotype : LEOPARD syndrome 1, 151100 (3) AD;
Leukemia, juvenile myelomonocytic, somatic, 607785 (3);
Metachondromatosis, 156250 (3) AD;
Noonan syndrome 1, 163950 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.7441Exomiser_gene_pheno_score : 0.7441
Human_pheno_evidence : Brachydactyly; Noonan syndrome 1
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal cranium size; pectus excavatum
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.46
.RE_gene : .
12:112418947-112509918; 12:112418948-11250991[...]P_loss_coord : 12:112418947-112509918; 12:112418948-112509918; 12:112471497-112477633; 12:112472925-112473060; 12:112477646-112478021; 12:112477652-112478015
P_loss_source : HI3:PTPN11; dbVar:nssv15161651; dbVar:nssv17171364; dbVar:nssv17974237; dbVar:nssv18789491; morbid:PTPN11
P_loss_phen : LEOPARD syndrome 1, 151100 (3) AD; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3) AD; Noonan syndrome 1, 163950 (3) AD
P_loss_hpo : .
121P_snvindel_nb : 121
P_snvindel_phen : Abnormal_bleeding; Abnormal_cardiovascular_system_morphology; Abnormal_facial_shape; Abnormal_pinna_morphology; Acute_myeloid_leukemia; Astrocytoma; Atrial_septal_defect,_ostium_secundum_type; B-cell_chronic_lymphocytic_leukemia; B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype; Brachycephaly; CBL-related_disorder; Cafe-au-lait_spot; Cardiovascular_phenotype; Depressed_nasal_ridge; Dysplastic_pulmonary_valve; Early_T_cell_progenitor_acute_lymphoblastic_leukemia; Epicanthus; Failure_to_thrive; Global_developmental_delay; Hereditary_cancer-predisposing_syndrome; Hypertrophic_cardiomyopathy; Inborn_genetic_diseases; Intellectual_disability,_mild; Juvenile_myelomonocytic_leukemia; LEOPARD_syndrome_1; Lymphoma; Metachondromatosis; Microcephaly; Multiple_myeloma; Neoplasm_of_brain; Neoplasm_of_the_large_intestine; Neuroblastoma; Neurodevelopmental_abnormality; Neurodevelopmental_disorder; Non-immune_hydrops_fetalis; Noonan_syndrome; Noonan_syndrome_1; Noonan_syndrome_3; Noonan_syndrome_and_Noonan-related_syndrome; Noonan_syndrome_with_multiple_lentigines; PTPN11-related_condition; PTPN11-related_disorder; PTPN11_Related_Disorders; Patent_ductus_arteriosus; Pectus_excavatum; Proportionate_short_stature; Ptosis; RASopathy; Right_ventricular_hypertrophy; Scoliosis; See_cases; Short_stature; Specific_learning_disability; Squamous_cell_lung_carcinoma; Strabismus; Thrombocytopenia; Tricuspid_regurgitation; Wide_nasal_bridge; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DUSP6Gene_name : DUSP6;
LOEUF_bin : 0
GnomAD_pLI : 9.7603e-01
ExAC_pLI : 9.1121e-01
HI : .
TS : .
DDD_HI_percent : 2.13
ACMG : .
ExAC_cnvZ : 0.519913912945111
ExAC_delZ : 0.397608082762977
ExAC_dupZ : 0.359666875200538
ExAC_synZ : 1.37742610500578
ExAC_misZ : 2.89615678708392
GenCC_disease : Kallmann syndrome; hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 19 with or without anosmia
GenCC_moi : AD
GenCC_classification : Limited; Supportive
GenCC_pmid : 18753132; 23643382; 23643382[PMID]; 32520725; 34539727
NCBI_gene_ID : 1848
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_001946
Tx_version : 4
Tx_start : 89347234
Tx_end : 89352501
Exon_count : 3
Overlapped_tx_length : 5267
Overlapped_CDS_length : 1146
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89347234
Intersect_end : 89352501
602748; OMIM_ID : 602748;
OMIM_phenotype : Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
1.0000Exomiser_gene_pheno_score : 1.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal long bone epiphyseal ossification zone morphology; premature coronal suture closure
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:89347235-89352501P_loss_coord : 12:89347235-89352501
P_loss_source : morbid:DUSP6
P_loss_phen : Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Hypogonadotropic_hypogonadism_19_with_or_without_anosmia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TRPV4Gene_name : TRPV4;
LOEUF_bin : 5
GnomAD_pLI : 2.2370e-16
ExAC_pLI : 7.3195e-06
HI : .
TS : .
DDD_HI_percent : 17.43
ACMG : .
ExAC_cnvZ : 0.647400512638203
ExAC_delZ : 0.233098692766923
ExAC_dupZ : 0.714185610013519
ExAC_synZ : -0.749876334675314
ExAC_misZ : 3.23644589889579
GenCC_disease : Charcot-Marie-Tooth disease axonal type 2C; TRPV4-related bone disorder; autosomal dominant brachyolmia; brachyolmia; familial avascular necrosis of femoral head; familial digital arthropathy-brachydactyly; metatropic dysplasia; neuromuscular disease; neuronopathy, distal hereditary motor, autosomal dominant 8; parastremmatic dwarfism; scapuloperoneal spinal muscular atrophy, autosomal dominant; spondyloepimetaphyseal dysplasia, Maroteaux type; spondylometaphyseal dysplasia, Kozlowski type
GenCC_moi : AD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 12682323; 15668982; 1842522; 18587396; 18587396[PMID]_24830047[PMID]; 19232556; 20037586; 20037587; 20037587[PMID]; 20037588; 20301462[PMID]; 20425821; 20503319[PMID]_24830047[PMID]; 20577006; 21288981; 21454511; 21573172; 21964574; 21964574[PMID]_24830047[PMID]; 21964829; 22791502[PMID]; 24644033; 24677493; 24830047[PMID]; 24830047[PMID]_22526352[PMID]; 26170305; 27330106[PMID]; 606071
NCBI_gene_ID : 59341
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538630
Tx_version : 3
Tx_start : 109783086
Tx_end : 109819629
Exon_count : 16
Overlapped_tx_length : 36543
Overlapped_CDS_length : 2769
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109783086
Intersect_end : 109819629
605427; OMIM_ID : 605427;
OMIM_phenotype : ?Avascular necrosis of femoral head, primary, 2, 617383 (3) AD;
Brachyolmia type 3, 113500 (3) AD;
Digital arthropathy-brachydactyly, familial, 606835 (3) AD;
Hereditary motor and sensory neuropathy, type IIc, 606071 (3) AD;
Metatropic dysplasia, 156530 (3) AD;
Neuronopathy, distal hereditary motor, AD 8, 600175 (3) AD;
Parastremmatic dwarfism, 168400 (3) AD;
SED, Maroteaux type, 184095 (3) AD;
Scapuloperoneal spinal muscular atrophy, 181405 (3) AD;
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) AD;
[Sodium serum level QTL 1], 613508 (3);
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.7640Exomiser_gene_pheno_score : 0.7640
Human_pheno_evidence : Brachydactyly; Metatropic dysplasia
Mouse_pheno_evidence : Craniosynostosis; ocular hypertension
Fish_pheno_evidence : .
APhenoGenius_specificity : A
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 2.38
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
27P_snvindel_nb : 27
P_snvindel_phen : Avascular_necrosis_of_femoral_head,_primary,_2; Brachyrachia_(short_spine_dysplasia); Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease_axonal_type_2C; Clubfoot; Distal_spinal_muscular_atrophy; EMG_abnormality; Familial_digital_arthropathy-brachydactyly; Hereditary_motor_neuron_disease; Inborn_genetic_diseases; Lower_limb_amyotrophy; Metatropic_dysplasia; Neuromuscular_disease; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8; Parastremmatic_dwarfism; Scapuloperoneal_spinal_muscular_atrophy; Skeletal_dysplasia; Skeletal_dysplasia_and_progressive_central_nervous_system_degeneration,_lethal; Sodium_serum_level_quantitative_trait_locus_1; Spondyloepimetaphyseal_dysplasia,_Maroteaux_type; Spondylometaphyseal_dysplasia,_Kozlowski_type; TRPV4-Associated_Disorders; TRPV4-related_bone_disorder; TRPV4-related_condition; TRPV4-related_disorders
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KMT2DGene_name : KMT2D;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : 0
DDD_HI_percent : 17.49
ACMG : .
ExAC_cnvZ : 1.3380158829858
ExAC_delZ : 0.934218217205293
ExAC_dupZ : 1.42258462539321
ExAC_synZ : -2.61901511649011
ExAC_misZ : 3.28623082853147
GenCC_disease : Kabuki syndrome; Kabuki syndrome 1; branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome; choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
GenCC_moi : AD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 20711175; 21607748; 21671394; 21882399[PMID]; 22126750; 24633898; 24739679; 25142838; 25944076; 25972376; 27302555; 27530205; 27573763; 27991736; 28295206; 28404210; 29283410; 29482518; 29914387; 30569626; 31935506; 31949313; 32083401; 34136434; 34369642; 35060672; 575
NCBI_gene_ID : 8085
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_003482
Tx_version : 4
Tx_start : 49018977
Tx_end : 49060794
Exon_count : 55
Overlapped_tx_length : 41817
Overlapped_CDS_length : 16614
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49018977
Intersect_end : 49060794
602113; OMIM_ID : 602113;
OMIM_phenotype : Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186 (3) AD;
Kabuki syndrome 1, 147920 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6007Exomiser_gene_pheno_score : 0.6007
Human_pheno_evidence : Brachydactyly; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome; Clinodactyly; Craniosynostosis; Dolichocephaly
Mouse_pheno_evidence : Craniosynostosis; short maxilla
Fish_pheno_evidence : .
BPhenoGenius_specificity : B
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.86
.RE_gene : .
12:49018978-49060794; 12:49018979-49060794; 1[...]P_loss_coord : 12:49018978-49060794; 12:49018979-49060794; 12:49025252-49030913; 12:49032881-49032939; 12:49039725-49043428; 12:49040812-49045663
P_loss_source : HI3:KMT2D; dbVar:nssv16215079; dbVar:nssv16297108; dbVar:nssv16297140; dbVar:nssv17976251; morbid:KMT2D
P_loss_phen : Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186 (3) AD; Kabuki syndrome 1, 147920 (3) AD
P_loss_hpo : .
536P_snvindel_nb : 536
P_snvindel_phen : Abnormality_of_the_nervous_system; CHARGE_association; Cavernous_sinus_meningioma; Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome; Complement_component_C1s_deficiency; Dandy-Walker_syndrome; Inborn_genetic_diseases; Intellectual_disability; KMT2D-related_condition; KMT2D-related_disorders; Kabuki_syndrome; Kabuki_syndrome_1; Lung_cancer; Lymphoma; Microcephaly; Multiple_myeloma; Neurodevelopmental_delay; Neurodevelopmental_disorder; See_cases; Seizure; Smith-Magenis_Syndrome-like; Vein_of_Galen_aneurysmal_malformation
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRICKLE1Gene_name : PRICKLE1;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9197e-01
HI : .
TS : .
DDD_HI_percent : 46.06
ACMG : .
ExAC_cnvZ : 0.400329951590259
ExAC_delZ : 0.555817667946772
ExAC_dupZ : 0.14932937043713
ExAC_synZ : 0.616945806144053
ExAC_misZ : 1.95905082137864
GenCC_disease : Unverricht-Lundborg syndrome; epilepsy; epilepsy, progressive myoclonic, 1B; progressive myoclonus epilepsy
GenCC_moi : AD; AR
GenCC_classification : Disputed Evidence; Limited; Strong; Supportive
GenCC_pmid : 18976727; 18976727[PMID]
NCBI_gene_ID : 144165
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_153026
Tx_version : 3
Tx_start : 42456756
Tx_end : 42589746
Exon_count : 8
Overlapped_tx_length : 132990
Overlapped_CDS_length : 2496
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42456756
Intersect_end : 42589746
608500; OMIM_ID : 608500;
OMIM_phenotype : Epilepsy, progressive myoclonic 1B, 612437 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.9628Exomiser_gene_pheno_score : 0.9628
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; brachydactyly; prominent forehead
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:42456757-42589746; 12:42476401-42505654; 1[...]P_loss_coord : 12:42456757-42589746; 12:42476401-42505654; 12:42477878-42504431
P_loss_source : dbVar:nssv15124484; dbVar:nssv16215294; morbid:PRICKLE1
P_loss_phen : Epilepsy, progressive myoclonic 1B, 612437 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Epilepsy,_progressive_myoclonic,_1B
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT5Gene_name : KRT5;
LOEUF_bin : 2
GnomAD_pLI : 6.4172e-01
ExAC_pLI : 4.6933e-01
HI : .
TS : .
DDD_HI_percent : 17.99
ACMG : .
ExAC_cnvZ : 1.46334854471221
ExAC_delZ : 1.12112163835527
ExAC_dupZ : 1.38900415788718
ExAC_synZ : -1.21730061730137
ExAC_misZ : 0.477424630662686
GenCC_disease : Dowling-Degos disease; Dowling-Degos disease 1; epidermolysis bullosa simplex 1A, generalized severe; epidermolysis bullosa simplex 1B, generalized intermediate; epidermolysis bullosa simplex 1C, localized; epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; epidermolysis bullosa simplex 2B, generalized intermediate; epidermolysis bullosa simplex 2E, with migratory circinate erythema; epidermolysis bullosa simplex 2F, with mottled pigmentation; epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
GenCC_moi : AD; AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 10234505; 10383750; 11407989; 11408584; 11973334; 12655565; 12925204[PMID]; 16465624; 16465624[PMID]; 16917491; 19267394; 19616543; 20060687; 20301543[PMID]; 21569119; 25284854; 26432462; 26743602; 28576738; 29334134; 29932457; 31302245; 31312705; 32884918; 52517502; 52520040; 7534039; 8799157
NCBI_gene_ID : 3852
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_000424
Tx_version : 4
Tx_start : 52514574
Tx_end : 52520394
Exon_count : 9
Overlapped_tx_length : 5820
Overlapped_CDS_length : 1773
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52514574
Intersect_end : 52520394
148040; OMIM_ID : 148040;
OMIM_phenotype : Dowling-Degos disease 1, 179850 (3) AD;
Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3) AD;
Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3) AD;
Epidermolysis bullosa simplex 2C, localized, 619594 (3) AD;
Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR, 619599 (3) AR;
Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3) AD;
Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8574Exomiser_gene_pheno_score : 0.8574
Human_pheno_evidence : Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Brachydactyly; Craniosynostosis; Nail dystrophy
Mouse_pheno_evidence : Brachydactyly; abnormal autopod morphology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.2
.RE_gene : .
12:52514575-52520394P_loss_coord : 12:52514575-52520394
P_loss_source : morbid:KRT5
P_loss_phen : Dowling-Degos disease 1, 179850 (3) AD; Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3) AD; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3) AD; Epidermolysis bullosa simplex 2C, localized, 619594 (3) AD; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR, 619599 (3) AR; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3) AD; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3) AD
P_loss_hpo : .
45P_snvindel_nb : 45
P_snvindel_phen : Dowling-Degos_disease_1; Epidermolysis_bullosa; Epidermolysis_bullosa_simplex; Epidermolysis_bullosa_simplex,_Koebner_type; Epidermolysis_bullosa_simplex_1A,_generalized_severe; Epidermolysis_bullosa_simplex_1C,_localized; Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive; Epidermolysis_bullosa_simplex_2A,_generalized_severe; Epidermolysis_bullosa_simplex_2B,_generalized_intermediate; Epidermolysis_bullosa_simplex_2C,_localized; Epidermolysis_bullosa_simplex_with_migratory_circinate_erythema; Epidermolysis_bullosa_simplex_with_mottled_pigmentation; KRT5-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MED13LGene_name : MED13L;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : 0
DDD_HI_percent : 7.11
ACMG : .
ExAC_cnvZ : 0.0709590937600541
ExAC_delZ : 0.81762680929429
ExAC_dupZ : -0.319239086206362
ExAC_synZ : 0.512393790098124
ExAC_misZ : 4.17213283930451
GenCC_disease : cardiac anomalies - developmental delay - facial dysmorphism syndrome; intellectual disability, autosomal dominant 40; syndromic intellectual disability
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 14638541; 23403903; 23403903[PMID]_25712080[PMID]; 24550107; 24781760; 25137640; 25167861; 25356899; 25712080; 25758992; 28371282; 28645799; 29159987; 29511999; 29740699; 29959045; 31337854
NCBI_gene_ID : 23389
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : 5'UTR-3'UTR
Tx : NM_015335
Tx_version : 5
Tx_start : 115958575
Tx_end : 116277693
Exon_count : 31
Overlapped_tx_length : 319118
Overlapped_CDS_length : 6633
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115958575
Intersect_end : 116277693
608771; OMIM_ID : 608771;
OMIM_phenotype : Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6543Exomiser_gene_pheno_score : 0.6543
Human_pheno_evidence : Brachydactyly; Clinodactyly; Craniosynostosis; Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; Plagiocephaly
Mouse_pheno_evidence : Craniosynostosis; microphthalmia
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.13
.RE_gene : .
12:115958576-116277693; 12:115958577-11627769[...]P_loss_coord : 12:115958576-116277693; 12:115958577-116277693; 12:115961247-116096772; 12:115980731-115982623; 12:115982184-116022795; 12:116005659-116019999; 12:116008504-116200640; 12:116014142-116019839; 12:116014143-116019838; 12:116018725-116050715; 12:116019419-116054358; 12:116024443-116165654; 12:116038359-116218486; 12:116043865-116131751; 12:116046436-116126238; 12:116060178-116097144; 12:116065323-116120287; 12:116085996-116143669; 12:116090710-116168006; 12:116093408-116167581; 12:116096650-116111532; 12:116096670-116111512; 12:116103618-116165654; 12:116184928-116248171; 12:116235336-116239190
P_loss_source : CLN:964675; HI3:MED13L; dbVar:nssv15120280; dbVar:nssv15120281; dbVar:nssv15124438; dbVar:nssv15138236; dbVar:nssv15138718; dbVar:nssv15150399; dbVar:nssv15153891; dbVar:nssv15605785; dbVar:nssv15605921; dbVar:nssv16208356; dbVar:nssv16208357; nssv16296980; dbVar:nssv16208669; dbVar:nssv16212577; dbVar:nssv16215080; dbVar:nssv16296981; dbVar:nssv16297133; dbVar:nssv16867402; dbVar:nssv17955581; dbVar:nssv17956942; dbVar:nssv17969560; dbVar:nssv18786731; dbVar:nssv18786732; morbid:MED13L
P_loss_phen : Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3) AD
P_loss_hpo : .
137P_snvindel_nb : 137
P_snvindel_phen : Autism_spectrum_disorder; Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Delayed_speech_and_language_development; Global_developmental_delay; Inborn_genetic_diseases; Intellectual_disability; Kabuki-like_syndrome; MED13L-Related_Disorder; MED13L-related_neurodevelopmental_disorder; Motor_delay; Neurodevelopmental_disorder; See_cases; Strabismus; Transposition_of_the_great_arteries,_dextro-looped; Vesicoureteral_reflux
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GNPTABGene_name : GNPTAB;
LOEUF_bin : 4
GnomAD_pLI : 7.6824e-19
ExAC_pLI : 4.2256e-06
HI : .
TS : .
DDD_HI_percent : 19.02
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.747110703965223
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.317300454806777
ExAC_misZ : 0.969968900993707
GenCC_disease : GNPTAB-mucolipidosis; mucolipidosis; mucolipidosis type II; mucolipidosis type III, alpha/beta
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 121350; 15633164; 16094673; 16116615; 16200072; 16465621; 18425436[PMID]; 19197337; 19261645; 19617216; 19634183; 24060719; 24891900; 25107912; 251330; 282744; 34341521
NCBI_gene_ID : 79158
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_024312
Tx_version : 5
Tx_start : 101745498
Tx_end : 101830959
Exon_count : 21
Overlapped_tx_length : 85461
Overlapped_CDS_length : 3771
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101745498
Intersect_end : 101830959
607840; OMIM_ID : 607840;
OMIM_phenotype : Mucolipidosis II alpha/beta, 252500 (3) AR;
Mucolipidosis III alpha/beta, 252600 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8684Exomiser_gene_pheno_score : 0.8684
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Mucolipidosis III alpha/beta; Soft tissue swelling of interphalangeal joints
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal epiphyseal plate morphology; decreased bone mineral density
Fish_pheno_evidence : Craniosynostosis; endochondral bone decreased occurrence ossification, abnormal
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.3
.RE_gene : .
12:101747145-101796782; 12:101747155-10176177[...]P_loss_coord : 12:101747145-101796782; 12:101747155-101761773; 12:101747155-101830685; 12:101756215-101830959; 12:101764193-101780631; 12:101764639-101791596; 12:101780143-101780631; 12:101780143-101830685
P_loss_source : dbVar:nssv16214597; dbVar:nssv17172113; dbVar:nssv17972728; dbVar:nssv18787644; dbVar:nssv18787645; dbVar:nssv18787646; dbVar:nssv18787647; morbid:GNPTAB
P_loss_phen : Mucolipidosis II alpha; beta, 252500 (3) AR; Mucolipidosis III alpha; beta, 252600 (3) AR
P_loss_hpo : .
160P_snvindel_nb : 160
P_snvindel_phen : Abnormality_of_metabolism/homeostasis; GNPTAB-Related_Disorders; GNPTAB-related_disorder; Inborn_genetic_diseases; Juvenile_osteochondrosis_of_spine; Legg-Calve-Perthes_disease; Mucolipidosis; Mucolipidosis_type_II; Mucopolysaccharidosis,_MPS-III-A; Pseudo-Hurler_polydystrophy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IFT81Gene_name : IFT81;
LOEUF_bin : 4
GnomAD_pLI : 9.0878e-12
ExAC_pLI : 5.7603e-07
HI : .
TS : .
DDD_HI_percent : 18.77
ACMG : .
ExAC_cnvZ : 1.13877608644467
ExAC_delZ : 0.501846983931831
ExAC_dupZ : 1.2152266989916
ExAC_synZ : -0.0221706201848208
ExAC_misZ : -0.230464280546208
GenCC_disease : ciliopathy; short-rib thoracic dysplasia 19 with or without polydactyly
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 26275418; 27666822
NCBI_gene_ID : 28981
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001143779
Tx_version : 2
Tx_start : 110124356
Tx_end : 110218793
Exon_count : 19
Overlapped_tx_length : 94437
Overlapped_CDS_length : 2031
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110124356
Intersect_end : 110218793
605489; OMIM_ID : 605489;
OMIM_phenotype : Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8020Exomiser_gene_pheno_score : 0.8020
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Dolichocephaly; Short-rib thoracic dysplasia 19 with or without polydactyly
Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.47
.RE_gene : .
12:110124357-110218793; 12:110143363-110143565P_loss_coord : 12:110124357-110218793; 12:110143363-110143565
P_loss_source : dbVar:nssv18790832; morbid:IFT81
P_loss_phen : Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3) AR
P_loss_hpo : .
22P_snvindel_nb : 22
P_snvindel_phen : Jeune_thoracic_dystrophy; SHORT-RIB_THORACIC_DYSPLASIA_19_WITHOUT_POLYDACTYLY; Short-rib_thoracic_dysplasia_19_with_or_without_polydactyly
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TCTN2Gene_name : TCTN2;
LOEUF_bin : 5
GnomAD_pLI : 1.8379e-14
ExAC_pLI : 1.9717e-05
HI : 30
TS : 0
DDD_HI_percent : 87.7
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62218932487291
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.32794609884853
ExAC_misZ : -0.118316353788369
GenCC_disease : Joubert syndrome; Joubert syndrome 24; Meckel syndrome
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 21462283[PMID]; 21565611; 21565611[PMID]
NCBI_gene_ID : 79867
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_024809
Tx_version : 5
Tx_start : 123671112
Tx_end : 123708399
Exon_count : 18
Overlapped_tx_length : 37287
Overlapped_CDS_length : 2094
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123671112
Intersect_end : 123708399
613846; OMIM_ID : 613846;
OMIM_phenotype : ?Meckel syndrome 8, 613885 (3) AR;
Joubert syndrome 24, 616654 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.7815Exomiser_gene_pheno_score : 0.7815
Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; microphthalmia; preaxial polydactyly
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
12:123671113-123704531; 12:123679291-12369970[...]P_loss_coord : 12:123671113-123704531; 12:123679291-123699703; 12:123686945-123708399; 12:123699685-123699830; 12:123704513-123707713
P_loss_source : dbVar:nssv16214268; dbVar:nssv17955829; dbVar:nssv18326636; dbVar:nssv18787718; morbid:TCTN2
P_loss_phen : ?Meckel syndrome 8, 613885 (3) AR; Joubert syndrome 24, 616654 (3) AR
P_loss_hpo : .
29P_snvindel_nb : 29
P_snvindel_phen : Familial_aplasia_of_the_vermis; Joubert_syndrome_24; Joubert_syndrome_and_related_disorders; Meckel-Gruber_syndrome; Meckel_syndrome,_type_6; Meckel_syndrome,_type_8; TCTN2-Related_Disorders
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRIM1Gene_name : PRIM1;
LOEUF_bin : 3
GnomAD_pLI : 9.9380e-04
ExAC_pLI : 2.6898e-02
HI : .
TS : .
DDD_HI_percent : 17.91
ACMG : .
ExAC_cnvZ : 0.822812574489605
ExAC_delZ : 0.689341211351565
ExAC_dupZ : 0.604934826074449
ExAC_synZ : 0.22637650585998
ExAC_misZ : 1.16930552079213
GenCC_disease : primordial dwarfism-immunodeficiency-lipodystrophy syndrome
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 33060134
NCBI_gene_ID : 5557
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_000946
Tx_version : 3
Tx_start : 56731579
Tx_end : 56752323
Exon_count : 13
Overlapped_tx_length : 20744
Overlapped_CDS_length : 1263
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56731579
Intersect_end : 56752323
176635; OMIM_ID : 176635;
OMIM_phenotype : Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8569Exomiser_gene_pheno_score : 0.8569
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome; Tapered finger
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:56731580-56752323P_loss_coord : 12:56731580-56752323
P_loss_source : morbid:PRIM1
P_loss_phen : Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ALX1Gene_name : ALX1;
LOEUF_bin : 3
GnomAD_pLI : 1.7618e-01
ExAC_pLI : 6.0033e-01
HI : .
TS : .
DDD_HI_percent : 9.77
ACMG : .
ExAC_cnvZ : 0.421420754039277
ExAC_delZ : -0.426865339994389
ExAC_dupZ : 0.86581312423868
ExAC_synZ : 0.772641960302058
ExAC_misZ : 1.22470242366057
GenCC_disease : frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 20451171; 20451171[PMID]; 23059813; 27324866; 35127681; 8673125
NCBI_gene_ID : 8092
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_006982
Tx_version : 3
Tx_start : 85280219
Tx_end : 85301784
Exon_count : 4
Overlapped_tx_length : 21565
Overlapped_CDS_length : 981
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85280219
Intersect_end : 85301784
601527; OMIM_ID : 601527;
OMIM_phenotype : Frontonasal dysplasia 3, 613456 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.7551Exomiser_gene_pheno_score : 0.7551
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Hypoplasia of the frontal bone
Mouse_pheno_evidence : Craniosynostosis; acrania
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.38
.RE_gene : .
12:85280220-85301784P_loss_coord : 12:85280220-85301784
P_loss_source : morbid:ALX1
P_loss_phen : Frontonasal dysplasia 3, 613456 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:85080468-85303522
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP6V0A2Gene_name : ATP6V0A2;
LOEUF_bin : 4
GnomAD_pLI : 2.6314e-11
ExAC_pLI : 4.7381e-06
HI : 30
TS : 0
DDD_HI_percent : 46.77
ACMG : .
ExAC_cnvZ : 0.651053003240021
ExAC_delZ : -0.146783475295934
ExAC_dupZ : 1.06728894691475
ExAC_synZ : 0.702579436006219
ExAC_misZ : 0.146292937485518
GenCC_disease : autosomal recessive cutis laxa type 2, classic type; autosomal recessive cutis laxa type 2A; wrinkly skin syndrome
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15657616; 18157129; 18157129[PMID]; 19321599; 20301755[PMID]_19321599[PMID]_18157129[PMID]; 23963297; 27896089
NCBI_gene_ID : 23545
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_012463
Tx_version : 4
Tx_start : 123712352
Tx_end : 123761755
Exon_count : 20
Overlapped_tx_length : 49403
Overlapped_CDS_length : 2571
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123712352
Intersect_end : 123761755
611716; OMIM_ID : 611716;
OMIM_phenotype : Cutis laxa, AR, type IIA, 219200 (3) AR;
Wrinkly skin syndrome, 278250 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.7291Exomiser_gene_pheno_score : 0.7291
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Fragile nails; Wormian bones; Wrinkly skin syndrome
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.5
.RE_gene : .
12:123736186-123761755P_loss_coord : 12:123736186-123761755
P_loss_source : morbid:ATP6V0A2
P_loss_phen : Cutis laxa, AR, type IIA, 219200 (3) AR; Wrinkly skin syndrome, 278250 (3) AR
P_loss_hpo : .
18P_snvindel_nb : 18
P_snvindel_phen : ALG9_congenital_disorder_of_glycosylation; Cutis_laxa; Cutis_laxa_with_osteodystrophy; Wrinkly_skin_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CHST11Gene_name : CHST11;
LOEUF_bin : 2
GnomAD_pLI : 4.0602e-01
ExAC_pLI : 3.9839e-01
HI : .
TS : .
DDD_HI_percent : 16.43
ACMG : .
ExAC_cnvZ : 0.778571156092532
ExAC_delZ : 0.359697117358891
ExAC_dupZ : 0.675523846244887
ExAC_synZ : 0.39032652901992
ExAC_misZ : 2.38136978625447
GenCC_disease : osteochondrodysplasia, brachydactyly, and overlapping malformed digits
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 16079159; 26436107; 29514872
NCBI_gene_ID : 50515
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_018413
Tx_version : 6
Tx_start : 104456947
Tx_end : 104762014
Exon_count : 3
Overlapped_tx_length : 305067
Overlapped_CDS_length : 1059
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104456947
Intersect_end : 104762014
610128; OMIM_ID : 610128;
OMIM_phenotype : ?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, 618167 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.7407Exomiser_gene_pheno_score : 0.7407
Human_pheno_evidence : ?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits; Brachydactyly
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal phalanx morphology; domed cranium
Fish_pheno_evidence : .
BPhenoGenius_specificity : B
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 1.71
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PAHGene_name : PAH;
LOEUF_bin : 8
GnomAD_pLI : 6.4046e-23
ExAC_pLI : 1.1952e-10
HI : 30
TS : 0
DDD_HI_percent : 20.97
ACMG : .
ExAC_cnvZ : 1.30399273926204
ExAC_delZ : 0.848616712502524
ExAC_dupZ : 1.12017290598088
ExAC_synZ : -0.423165376241366
ExAC_misZ : -1.50534773821518
GenCC_disease : classic phenylketonuria; maternal phenylketonuria; mild hyperphenylalaninemia; mild phenylketonuria; phenylketonuria; tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 11935335; 12409276[PMID]; 1301187; 1301193; 1301200; 1301201; 1301947; 1312992; 1349576; 1358789; 1360590; 1363837; 1363838; 1671810; 1671881; 1679030; 1682235; 1709636; 1769645; 1915502[PMID]; 1975559; 1997387; 2014802; 20301677[PMID]; 2035532; 2044609; 2071149; 2309142; 2564729; 2573272; 2574002; 2606484; 2816939; 2840952; 2884570; 3008810; 7981714; 8088845; 8097261; 8098245; 8364546; 8829656; 9119379; 9634518; 9950317
NCBI_gene_ID : 5053
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001354304
Tx_version : 2
Tx_start : 102836888
Tx_end : 102958441
Exon_count : 14
Overlapped_tx_length : 121553
Overlapped_CDS_length : 1359
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102836888
Intersect_end : 102958441
612349; OMIM_ID : 612349;
OMIM_phenotype : Phenylketonuria, 261600 (3) AR;
[Hyperphenylalaninemia, non-PKU mild], 261600 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.7339Exomiser_gene_pheno_score : 0.7339
Human_pheno_evidence : Brachydactyly; Maternal phenylketonuria
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; microphthalmia
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.11
.RE_gene : .
12:102840517-102851686; 12:102843646-10284695[...]P_loss_coord : 12:102840517-102851686; 12:102843646-102846950; 12:102851253-102856068; 12:102851254-102856067; 12:102852796-102877570; 12:102853828-102917244; 12:102854489-102855290; 12:102854490-102855289; 12:102854491-102855289; 12:102854492-102855289; 12:102854999-102866649; 12:102855117-102855352; 12:102855127-102855342; 12:102855175-102855352; 12:102865713-102871067; 12:102865714-102871066; 12:102866370-102868041; 12:102866371-102868040; 12:102866577-102866683; 12:102866587-102866673; 12:102866595-102866663; 12:102894726-102894931; 12:102894736-102894918; 12:102917062-102917140; 12:102917539-102921296
P_loss_source : CLN:1053674; CLN:1053684; CLN:1053685; CLN:108417; CLN:2843200; CLN:462157; dbVar:nssv15119635; nssv17059609; dbVar:nssv15129203; dbVar:nssv15130212; dbVar:nssv15130213; dbVar:nssv15222951; dbVar:nssv15770107; dbVar:nssv15770275; dbVar:nssv16212451; dbVar:nssv16213855; dbVar:nssv16215138; dbVar:nssv16296925; dbVar:nssv17059581; dbVar:nssv17059592; dbVar:nssv17059610; dbVar:nssv17171637; dbVar:nssv17955840; dbVar:nssv17970902; dbVar:nssv18788907; morbid:PAH
P_loss_phen : Phenylketonuria; Phenylketonuria, 261600 (3) AR; Hyperphenylalaninemia, non-PKU mild, 261600 (3) AR; |Phenylketonuria
P_loss_hpo : .
446P_snvindel_nb : 446
P_snvindel_phen : 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency; Hyperphenylalaninemia; Inborn_genetic_diseases; Intellectual_disability; Marfanoid_habitus_and_intellectual_disability; PAH-related_condition; Phenylketonuria; Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis; Reduced_phenylalanine_hydroxylase_level; See_cases; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SMARCD1Gene_name : SMARCD1;
LOEUF_bin : 0
GnomAD_pLI : 9.9947e-01
ExAC_pLI : 9.9953e-01
HI : .
TS : .
DDD_HI_percent : 16.65
ACMG : .
ExAC_cnvZ : 1.09282314291385
ExAC_delZ : 1.23775454157152
ExAC_dupZ : 0.763972036328425
ExAC_synZ : 0.733314924392481
ExAC_misZ : 4.02732002897701
GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 11; autism, susceptibility to, 15
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 30879640; 30879640[PMID]
NCBI_gene_ID : 6602
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_003076
Tx_version : 5
Tx_start : 50085341
Tx_end : 50100707
Exon_count : 13
Overlapped_tx_length : 15366
Overlapped_CDS_length : 1548
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50085341
Intersect_end : 50100707
601735; OMIM_ID : 601735;
OMIM_phenotype : Coffin-Siris syndrome 11, 618779 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6414Exomiser_gene_pheno_score : 0.6414
Human_pheno_evidence : Coffin-Siris syndrome 11; Craniosynostosis; Prominent metopic ridge
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.16
.RE_gene : .
12:50085342-50100707P_loss_coord : 12:50085342-50100707
P_loss_source : morbid:SMARCD1
P_loss_phen : Coffin-Siris syndrome 11, 618779 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Coffin-Siris_syndrome_11
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANO6Gene_name : ANO6;
LOEUF_bin : 6
GnomAD_pLI : 7.3158e-32
ExAC_pLI : 4.5245e-20
HI : .
TS : .
DDD_HI_percent : 55.4
ACMG : .
ExAC_cnvZ : -0.0451893435032964
ExAC_delZ : 0.735205299042624
ExAC_dupZ : -0.45178104782056
ExAC_synZ : -0.147305481610779
ExAC_misZ : 0.348752019086184
GenCC_disease : Scott syndrome
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 21107324; 21107324[PMID]_21511967[PMID]; 21511967; 27879994
NCBI_gene_ID : 196527
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001204803
Tx_version : 2
Tx_start : 45216094
Tx_end : 45432349
Exon_count : 21
Overlapped_tx_length : 216255
Overlapped_CDS_length : 2796
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45216094
Intersect_end : 45432349
608663; OMIM_ID : 608663;
OMIM_phenotype : Scott syndrome, 262890 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.7939Exomiser_gene_pheno_score : 0.7939
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; absent olecranon; wide cranial sutures
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:45292690-45432349P_loss_coord : 12:45292690-45432349
P_loss_source : morbid:ANO6
P_loss_phen : Scott syndrome, 262890 (3) AR
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : ANO6-related_condition; SCOTT_SYNDROME
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LEMD3Gene_name : LEMD3;
LOEUF_bin : 0
GnomAD_pLI : 9.9877e-01
ExAC_pLI : 9.9897e-01
HI : 3
TS : 0
DDD_HI_percent : 36.92
ACMG : .
ExAC_cnvZ : 0.753282875936535
ExAC_delZ : 0.919345244345633
ExAC_dupZ : 0.421641670549132
ExAC_synZ : 2.92791743465858
ExAC_misZ : 2.47447990077036
GenCC_disease : Buschke-Ollendorff syndrome; isolated osteopoikilosis; melorheostosis; melorheostosis with osteopoikilosis
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 121274; 12749062; 15489854; 15489854[PMID]; 15489854[PMID]_17087626[PMID]; 16470551; 17087626; 17223882; 19438932; 20678097; 20732851; 26694706[PMID]; 9295073
NCBI_gene_ID : 23592
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_014319
Tx_version : 5
Tx_start : 65169582
Tx_end : 65248355
Exon_count : 13
Overlapped_tx_length : 78773
Overlapped_CDS_length : 2736
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65169582
Intersect_end : 65248355
607844; OMIM_ID : 607844;
OMIM_phenotype : Buschke-Ollendorff syndrome, 166700 (3) AD;
Osteopoikilosis with or without melorheostosis, 166700 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4451Exomiser_gene_pheno_score : 0.4451
Human_pheno_evidence : Brachydactyly; Isolated osteopoikilosis; Syndactyly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.18
.RE_gene : .
12:65169583-65248355; 12:65169584-65248355P_loss_coord : 12:65169583-65248355; 12:65169584-65248355
P_loss_source : HI3:LEMD3; morbid:LEMD3
P_loss_phen : Buschke-Ollendorff syndrome, 166700 (3) AD; Osteopoikilosis with or without melorheostosis, 166700 (3) AD
P_loss_hpo : .
26P_snvindel_nb : 26
P_snvindel_phen : Cerebral_arteriovenous_malformation; Dermatofibrosis_lenticularis_disseminata; Dermatofibrosis_lenticularis_disseminata,_isolated; LEMD3-related_condition; Melorheostosis_with_osteopoikilosis
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CYP27B1Gene_name : CYP27B1;
LOEUF_bin : 5
GnomAD_pLI : 1.9194e-07
ExAC_pLI : 3.6016e-06
HI : .
TS : .
DDD_HI_percent : 46.38
ACMG : .
ExAC_cnvZ : -0.985762778905108
ExAC_delZ : -1.41308343606339
ExAC_dupZ : -0.674346201222731
ExAC_synZ : 0.605318244030508
ExAC_misZ : 2.1577587230328
GenCC_disease : vitamin D-dependent rickets, type 1; vitamin D-dependent rickets, type 1A
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 17488797; 22443290; 24818008; 27353739; 9837822; NULL
NCBI_gene_ID : 1594
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_000785
Tx_version : 4
Tx_start : 57762333
Tx_end : 57767078
Exon_count : 9
Overlapped_tx_length : 4745
Overlapped_CDS_length : 1527
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57762333
Intersect_end : 57767078
609506; OMIM_ID : 609506;
OMIM_phenotype : Vitamin D-dependent rickets, type I, 264700 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6691Exomiser_gene_pheno_score : 0.6691
Human_pheno_evidence : Craniosynostosis; Hypocalcemic vitamin D-dependent rickets; Wide cranial sutures
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal radius morphology; decreased bone mineral density
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.24
.RE_gene : .
12:57762334-57767078P_loss_coord : 12:57762334-57767078
P_loss_source : morbid:CYP27B1
P_loss_phen : Vitamin D-dependent rickets, type I, 264700 (3) AR
P_loss_hpo : .
37P_snvindel_nb : 37
P_snvindel_phen : Inborn_genetic_diseases; Vitamin_D-dependent_rickets,_type_1; Vitamin_D-dependent_rickets,_type_1A
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CNOT2Gene_name : CNOT2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9987e-01
HI : 1
TS : 0
DDD_HI_percent : 4.39
ACMG : .
ExAC_cnvZ : 0.478829454903821
ExAC_delZ : 1.09825948406245
ExAC_dupZ : 0.0421341328539237
ExAC_synZ : 1.46995640932789
ExAC_misZ : 3.67134252802436
GenCC_disease : intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : 28191890; 30768759; 31145527; 31512373; 36224108
NCBI_gene_ID : 4848
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_001199302
Tx_version : 2
Tx_start : 70243017
Tx_end : 70354993
Exon_count : 17
Overlapped_tx_length : 111976
Overlapped_CDS_length : 1623
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70243017
Intersect_end : 70354993
604909; OMIM_ID : 604909;
OMIM_phenotype : Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5235Exomiser_gene_pheno_score : 0.5235
Human_pheno_evidence : Brachydactyly; Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies; Short 5th finger
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
BPhenoGenius_specificity : B
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.68
.RE_gene : .
12:70278132-70354993P_loss_coord : 12:70278132-70354993
P_loss_source : morbid:CNOT2
P_loss_phen : Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SP7Gene_name : SP7;
LOEUF_bin : 2
GnomAD_pLI : 5.8269e-01
ExAC_pLI : 6.6314e-01
HI : .
TS : .
DDD_HI_percent : 14.44
ACMG : .
ExAC_cnvZ : 0.0772030392963045
ExAC_delZ : -0.029069195940474
ExAC_dupZ : 0.0209085634680951
ExAC_synZ : -0.107560145558218
ExAC_misZ : 0.634820658834807
GenCC_disease : osteogenesis imperfecta type 12; osteogenesis imperfecta type 4
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 11792318; 20579626; 21438135[PMID]; 29382611
NCBI_gene_ID : 121340
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001173467
Tx_version : 3
Tx_start : 53326574
Tx_end : 53336354
Exon_count : 3
Overlapped_tx_length : 9780
Overlapped_CDS_length : 1296
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53326574
Intersect_end : 53336354
606633; OMIM_ID : 606633;
OMIM_phenotype : Osteogenesis imperfecta, type XII, 613849 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.7303Exomiser_gene_pheno_score : 0.7303
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Hyperextensibility of the finger joints; Osteogenesis imperfecta, type XII; Wormian bones
Mouse_pheno_evidence : Craniosynostosis; failure of bone ossification
Fish_pheno_evidence : Craniosynostosis; fibrous joint cranial vault morphology, abnormal
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.07
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KIF21AGene_name : KIF21A;
LOEUF_bin : 2
GnomAD_pLI : 2.8650e-08
ExAC_pLI : 6.1801e-05
HI : .
TS : .
DDD_HI_percent : 32.21
ACMG : .
ExAC_cnvZ : 1.33419640834425
ExAC_delZ : 1.74524902452368
ExAC_dupZ : 0.852994823333204
ExAC_synZ : 0.0872741469485114
ExAC_misZ : 1.3471035544537
GenCC_disease : congenital fibrosis of extraocular muscles; congenital fibrosis of extraocular muscles type 1
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 14595441; 15621876; 17511870; 20301522; 20301522[PMID]; 21805025; 24426772; 27513105
NCBI_gene_ID : 55605
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001378439
Tx_version : 1
Tx_start : 39293227
Tx_end : 39443120
Exon_count : 38
Overlapped_tx_length : 149893
Overlapped_CDS_length : 5028
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39293227
Intersect_end : 39443120
608283; OMIM_ID : 608283;
OMIM_phenotype : Fibrosis of extraocular muscles, congenital, 1, 135700 (3) AD;
Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6269Exomiser_gene_pheno_score : 0.6269
Human_pheno_evidence : Brachydactyly; Congenital fibrosis of extraocular muscles; Craniosynostosis; Hand oligodactyly; Plagiocephaly
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.17
.RE_gene : .
12:39293228-39443120P_loss_coord : 12:39293228-39443120
P_loss_source : morbid:KIF21A
P_loss_phen : Fibrosis of extraocular muscles, congenital, 1, 135700 (3) AD; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) AD
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Congenital_fibrosis_of_extraocular_muscles_type_1; Fibrosis_of_extraocular_muscles,_congenital,_3b; KIF21A-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
VPS33AGene_name : VPS33A;
LOEUF_bin : 2
GnomAD_pLI : 1.8206e-01
ExAC_pLI : 6.8797e-01
HI : .
TS : .
DDD_HI_percent : 46.3
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 1.02419783314162
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.133397304804875
ExAC_misZ : 1.99550826014367
GenCC_disease : mucopolysaccharidosis-plus syndrome
GenCC_moi : AR
GenCC_classification : Limited; Moderate; Strong
GenCC_pmid : 27547915; 28013294
NCBI_gene_ID : 65082
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_022916
Tx_version : 6
Tx_start : 122229563
Tx_end : 122266494
Exon_count : 13
Overlapped_tx_length : 36931
Overlapped_CDS_length : 1791
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122229563
Intersect_end : 122266494
610034; OMIM_ID : 610034;
OMIM_phenotype : Mucopolysaccharidosis-plus syndrome, 617303 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6247Exomiser_gene_pheno_score : 0.6247
Human_pheno_evidence : Brachydactyly; Clubbing; Mucopolysaccharidosis-plus syndrome
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; cataract
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.1
.RE_gene : .
12:122252862-122266494P_loss_coord : 12:122252862-122266494
P_loss_source : morbid:VPS33A
P_loss_phen : Mucopolysaccharidosis-plus syndrome, 617303 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HNRNPA1Gene_name : HNRNPA1;
LOEUF_bin : 0
GnomAD_pLI : 9.9911e-01
ExAC_pLI : 9.6661e-01
HI : .
TS : .
DDD_HI_percent : 7.87
ACMG : .
ExAC_cnvZ : 0.77764756517091
ExAC_delZ : 0.623035203952016
ExAC_dupZ : 0.577444794541286
ExAC_synZ : 0.0593105223728669
ExAC_misZ : 3.29619181973674
GenCC_disease : amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 20; inclusion body myopathy with Paget disease of bone and frontotemporal dementia; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 23455423; 23455423[PMID]; 25002999; 27066560; 27694260; 29033165; 29342275
NCBI_gene_ID : 3178
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_031157
Tx_version : 4
Tx_start : 54280725
Tx_end : 54287087
Exon_count : 11
Overlapped_tx_length : 6362
Overlapped_CDS_length : 1119
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54280725
Intersect_end : 54287087
164017; OMIM_ID : 164017;
OMIM_phenotype : ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3) AD;
?Myopathy, distal, 3, 610099 (3) AD;
Amyotrophic lateral sclerosis 20, 615426 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.6048Exomiser_gene_pheno_score : 0.6048
Human_pheno_evidence : Abnormal calvaria morphology; Craniosynostosis; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.12
.RE_gene : .
12:54280726-54287087; 12:54284195-54284353P_loss_coord : 12:54280726-54287087; 12:54284195-54284353
P_loss_source : dbVar:nssv18830971; morbid:HNRNPA1
P_loss_phen : ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3) AD; ?Myopathy, distal, 3, 610099 (3) AD; Amyotrophic lateral sclerosis 20, 615426 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPS26Gene_name : RPS26;
LOEUF_bin : 2
GnomAD_pLI : 8.4833e-01
ExAC_pLI : 7.5334e-01
HI : 3
TS : 0
DDD_HI_percent : 45.57
ACMG : .
ExAC_cnvZ : 0.707284973587568
ExAC_delZ : 0.554913808751377
ExAC_dupZ : 0.517150848137641
ExAC_synZ : 0.660380116025978
ExAC_misZ : 3.1505544981897
GenCC_disease : Diamond-Blackfan anemia; Diamond-Blackfan anemia 10
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 20116044; 20301769[PMID]; 23718193; 24675553; 24942156; 25946618; 31277601
NCBI_gene_ID : 6231
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001029
Tx_version : 5
Tx_start : 56041917
Tx_end : 56044697
Exon_count : 4
Overlapped_tx_length : 2780
Overlapped_CDS_length : 348
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56041917
Intersect_end : 56044697
603701; OMIM_ID : 603701;
OMIM_phenotype : Diamond-Blackfan anemia 10, 613309 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5165Exomiser_gene_pheno_score : 0.5165
Human_pheno_evidence : Brachydactyly; Diamond-Blackfan anemia; Short thumb
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:56041918-56044697; 12:56041919-56044697P_loss_coord : 12:56041918-56044697; 12:56041919-56044697
P_loss_source : HI3:RPS26; morbid:RPS26
P_loss_phen : Diamond-Blackfan anemia 10, 613309 (3) AD
P_loss_hpo : .
16P_snvindel_nb : 16
P_snvindel_phen : Bone_marrow_hypocellularity; Diamond-Blackfan_anemia; Diamond-Blackfan_anemia_10; Diamond-Blackfan_anemia_15_with_mandibulofacial_dysostosis; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UBE3BGene_name : UBE3B;
LOEUF_bin : 2
GnomAD_pLI : 4.1871e-08
ExAC_pLI : 9.3877e-03
HI : 30
TS : 0
DDD_HI_percent : 57.19
ACMG : .
ExAC_cnvZ : 0.807145286006778
ExAC_delZ : 0.41052529709413
ExAC_dupZ : 0.889081311281341
ExAC_synZ : 0.991054208358146
ExAC_misZ : 1.04975463586286
GenCC_disease : blepharophimosis - intellectual disability syndrome due to UBE3B deficiency; oculocerebrofacial syndrome, Kaufman type
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 21567902; 23200864; 23687348; 23687348[PMID]; 24615390; 251204; 251340; 251364; 251482; 25691420
NCBI_gene_ID : 89910
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_130466
Tx_version : 4
Tx_start : 109477633
Tx_end : 109536702
Exon_count : 28
Overlapped_tx_length : 59069
Overlapped_CDS_length : 3207
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109477633
Intersect_end : 109536702
608047; OMIM_ID : 608047;
OMIM_phenotype : Kaufman oculocerebrofacial syndrome, 244450 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6124Exomiser_gene_pheno_score : 0.6124
Human_pheno_evidence : Arachnodactyly; Brachycephaly; Brachydactyly; Craniosynostosis; Oculocerebrofacial syndrome, Kaufman type
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
26P_snvindel_nb : 26
P_snvindel_phen : Blepharophimosis_-_intellectual_disability_syndrome; Inborn_genetic_diseases; Oculocerebrofacial_syndrome,_Kaufman_type
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
VDRGene_name : VDR;
LOEUF_bin : 4
GnomAD_pLI : 1.6787e-05
ExAC_pLI : 3.9213e-01
HI : .
TS : .
DDD_HI_percent : 1.92
ACMG : .
ExAC_cnvZ : 0.721043427036143
ExAC_delZ : 0.570727807044102
ExAC_dupZ : 0.541947258879218
ExAC_synZ : -0.545730717632036
ExAC_misZ : 1.17037188004649
GenCC_disease : vitamin D-dependent rickets, type 2; vitamin D-dependent rickets, type 2A
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10204116; 11564167; 17970811; 2177843; 24246681; 2557627; 2558018; 2849209; 3024987; 8392085; 8675579; 8961271; 9005998; 9284761[PMID]; 9360557
NCBI_gene_ID : 7421
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001364085
Tx_version : 2
Tx_start : 47841536
Tx_end : 47904994
Exon_count : 10
Overlapped_tx_length : 63458
Overlapped_CDS_length : 1485
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47841536
Intersect_end : 47904994
601769; OMIM_ID : 601769;
OMIM_phenotype : Rickets, vitamin D-resistant, type IIA, 277440 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6314Exomiser_gene_pheno_score : 0.6314
Human_pheno_evidence : Craniosynostosis; Rickets, vitamin D-resistant, type IIA; Widely patent fontanelles and sutures
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal bone ossification; abnormal limb bone morphology
Fish_pheno_evidence : Craniosynostosis; ossification involved in bone maturation delayed, abnormal
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.18
.RE_gene : .
12:47841537-47904994; 12:47844076-47844850P_loss_coord : 12:47841537-47904994; 12:47844076-47844850
P_loss_source : CLN:2861361; morbid:VDR
P_loss_phen : Rickets, vitamin D-resistant, type IIA, 277440 (3) AR
P_loss_hpo : .
13P_snvindel_nb : 13
P_snvindel_phen : Vitamin_D-dependent_rickets_type_II_with_alopecia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HMGA2Gene_name : HMGA2;
LOEUF_bin : 2
GnomAD_pLI : 8.7015e-01
ExAC_pLI : 7.3385e-01
HI : 1
TS : 0
DDD_HI_percent : 1.82
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.828051409481478
ExAC_misZ : 1.50577262856403
GenCC_disease : Silver-Russell syndrome 5; uterine corpus leiomyoma
GenCC_moi : AD
GenCC_classification : Limited; No Known Disease Relationship; Strong
GenCC_pmid : 19132395; 19765681; 22887875; 25809938; 28796236; 29453418; 29501611; 29655892
NCBI_gene_ID : 8091
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_001300919
Tx_version : 1
Tx_start : 65824459
Tx_end : 65915527
Exon_count : 4
Overlapped_tx_length : 91068
Overlapped_CDS_length : 444
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65824459
Intersect_end : 65915527
600698; OMIM_ID : 600698;
OMIM_phenotype : Silver-Russell syndrome 5, 618908 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6065Exomiser_gene_pheno_score : 0.6065
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Frontal bossing; Short 5th finger; Silver-Russell syndrome due to a point mutation
Mouse_pheno_evidence : Craniosynostosis; decreased cranium width
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.2
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Silver-Russell_syndrome_1; Silver-Russell_syndrome_5
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CEP290Gene_name : CEP290;
LOEUF_bin : 5
GnomAD_pLI : 1.0549e-60
ExAC_pLI : 1.0391e-34
HI : 30
TS : 0
DDD_HI_percent : 13.34
ACMG : .
ExAC_cnvZ : 0.330514096986351
ExAC_delZ : 0.22533823471436
ExAC_dupZ : 0.335258212314732
ExAC_synZ : -2.01006074934114
ExAC_misZ : -1.90443165293259
GenCC_disease : Bardet-Biedl syndrome; Bardet-Biedl syndrome 14; CEP290-related ciliopathy; Joubert syndrome 5; Joubert syndrome with oculorenal defect; Leber congenital amaurosis; Leber congenital amaurosis 10; Meckel syndrome; Senior-Loken syndrome
GenCC_moi : AD; AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 16682970; 16682973; 16909394; 17345604; 17554762; 17564967; 17564974; 17705300; 18327255; 20301537[PMID]; 20615230[PMID]_20301500[PMID]; 20690115; 21110233[PMID]_19466712[PMID]_17564974[PMID]; 22355252; 22819833[PMID]; 23943788; 25685757[PMID]_20301475[PMID]; 27434533; 27486776; 28559085
NCBI_gene_ID : 80184
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : 5'UTR-3'UTR
Tx : XM_011538756
Tx_version : 4
Tx_start : 88049015
Tx_end : 88142088
Exon_count : 57
Overlapped_tx_length : 93073
Overlapped_CDS_length : 8310
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88049015
Intersect_end : 88142088
610142; OMIM_ID : 610142;
OMIM_phenotype : ?Bardet-Biedl syndrome 14, 615991 (3) AR;
Joubert syndrome 5, 610188 (3) AR;
Leber congenital amaurosis 10, 611755 (3);
Meckel syndrome 4, 611134 (3) AR;
Senior-Loken syndrome 6, 610189 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.6248Exomiser_gene_pheno_score : 0.6248
Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome with oculorenal defect
Mouse_pheno_evidence : Craniosynostosis; abnormal head shape
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.34
.RE_gene : .
12:88049185-88059040; 12:88049382-88085170; 1[...]P_loss_coord : 12:88049185-88059040; 12:88049382-88085170; 12:88053643-88054423; 12:88058829-88101183; 12:88058839-88060030; 12:88064143-88142088; 12:88071275-88071946; 12:88077213-88079239; 12:88086020-88121186; 12:88107100-88114419; 12:88117024-88117155; 12:88118474-88125379; 12:88130289-88130341; 12:88130290-88130340
P_loss_source : CLN:1497314; dbVar:nssv15770298; dbVar:nssv17172884; dbVar:nssv17968917; dbVar:nssv17968931; dbVar:nssv17968937; dbVar:nssv17968968; dbVar:nssv17968972; dbVar:nssv17970986; dbVar:nssv18787735; dbVar:nssv18787736; dbVar:nssv18787737; dbVar:nssv18792607; morbid:CEP290
P_loss_phen : ?Bardet-Biedl syndrome 14, 615991 (3) AR; Joubert syndrome 5, 610188 (3) AR; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3) AR; Senior-Loken syndrome 6, 610189 (3) AR; Meckel-Gruber_syndrome|Nephronophthisis|Familial_aplasia_of_the_vermis
P_loss_hpo : HP:0000090; HP:0004748
450P_snvindel_nb : 450
P_snvindel_phen : Abnormal_facial_shape; Abnormality_of_prenatal_development_or_birth; Abnormality_of_the_kidney; Abnormality_of_the_nervous_system; Bardet-Biedl_syndrome_14; Blindness; CEP290-Related_Disorders; CEP290-related_ciliopathy; CEP290-related_condition; COG7_congenital_disorder_of_glycosylation; Central_hypotonia; Cerebellar_cyst; Cerebellar_vermis_hypoplasia; Cone-rod_dystrophy; Congenital_blindness; Cystic_renal_dysplasia; Encephalocele; Familial_aplasia_of_the_vermis; Global_developmental_delay; Hyperechogenic_kidneys; Hypotonia; Inborn_genetic_diseases; Intellectual_disability; Joubert_syndrome_1; Joubert_syndrome_5; Kidney_disorder; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Meckel_syndrome,_type_6; Micrognathia; Molar_tooth_sign_on_MRI; Nephronophthisis; Night_blindness; Nystagmus; Occipital_encephalocele; Polycystic_kidney_disease; Renal_dysplasia_and_retinal_aplasia; Retinal_dystrophy; Retinitis_pigmentosa; Rod-cone_dystrophy; See_cases; Senior-Loken_syndrome_6; Severe_hydrocephalus; Spastic_ataxia; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPP1R12AGene_name : PPP1R12A;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9918e-01
HI : .
TS : .
DDD_HI_percent : 2.14
ACMG : .
ExAC_cnvZ : -0.649377114855365
ExAC_delZ : 0.510245954541358
ExAC_dupZ : -1.1125411580585
ExAC_synZ : -1.88465820613207
ExAC_misZ : 0.902272839321398
GenCC_disease : genitourinary and/or brain malformation syndrome
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : 10208747; 12505998; 19515695; 26113782; 28191890; 28941034; 31883643
NCBI_gene_ID : 4659
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2-q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_001143885
Tx_version : 2
Tx_start : 79773567
Tx_end : 79935460
Exon_count : 26
Overlapped_tx_length : 161893
Overlapped_CDS_length : 3093
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79773567
Intersect_end : 79935460
602021; OMIM_ID : 602021;
OMIM_phenotype : Genitourinary and/or/brain malformation syndrome, 618820 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6507Exomiser_gene_pheno_score : 0.6507
Human_pheno_evidence : Acrania; Brachydactyly; Craniosynostosis; Genitourinary and/or/brain malformation syndrome; Syndactyly
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head surface feature shape, abnormal
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:79773568-79935460; 12:79793864-79828464; 1[...]P_loss_coord : 12:79773568-79935460; 12:79793864-79828464; 12:79845283-79934931
P_loss_source : dbVar:nssv18791811; dbVar:nssv18792790; morbid:PPP1R12A
P_loss_phen : Genitourinary and; or; brain malformation syndrome, 618820 (3) AD
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : Genitourinary_and/or_brain_malformation_syndrome; PPP1R12A-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MARS1Gene_name : MARS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease axonal type 2U; autosomal recessive spastic paraplegia type 70; severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; spastic paraplegia 70, autosomal recessive; trichothiodystrophy 9, nonphotosensitive
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 23729695; 23729695[PMID]; 24103465; 24103465[PMID]_25913036[PMID]; 24354524; 24482476; 24482476[PMID]; 25913036; 27025386; 27717217; 29582526; 30271085; 33909043; 34585293; 35723632
NCBI_gene_ID : 4141
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_004990
Tx_version : 4
Tx_start : 57488067
Tx_end : 57516652
Exon_count : 21
Overlapped_tx_length : 28585
Overlapped_CDS_length : 2703
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57488067
Intersect_end : 57516652
156560; OMIM_ID : 156560;
OMIM_phenotype : ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3) AR;
Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) AD;
Interstitial lung and liver disease, 615486 (3) AR;
Spastic paraplegia 70, AR, 620323 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.7421Exomiser_gene_pheno_score : 0.7421
Human_pheno_evidence : ?Trichothiodystrophy 9, nonphotosensitive; Brachydactyly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.08
.RE_gene : .
12:57489491-57516652P_loss_coord : 12:57489491-57516652
P_loss_source : morbid:MARS1
P_loss_phen : ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3) AR; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) AD; Interstitial lung and liver disease, 615486 (3) AR; Spastic paraplegia 70, AR, 620323 (3) AR
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Charcot-Marie-Tooth_disease_axonal_type_2U; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACVRL1Gene_name : ACVRL1;
LOEUF_bin : 3
GnomAD_pLI : 9.6719e-04
ExAC_pLI : 7.9411e-03
HI : 3
TS : 0
DDD_HI_percent : 49.42
ACMG : ACMG
ExAC_cnvZ : 0.868259636141919
ExAC_delZ : 0.716992278987793
ExAC_dupZ : 0.712040252808786
ExAC_synZ : 0.437515459929984
ExAC_misZ : 2.19602459654767
GenCC_disease : hereditary hemorrhagic telangiectasia; telangiectasia, hereditary hemorrhagic, type 2
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10716993; 10946360; 12588795; 12843319; 15879500; 16542389; 16690726; 16752392; 20301525[PMID]; 20414677
NCBI_gene_ID : 94
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001406487
Tx_version : 1
Tx_start : 51906943
Tx_end : 51923361
Exon_count : 11
Overlapped_tx_length : 16418
Overlapped_CDS_length : 1512
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51906943
Intersect_end : 51923361
601284; OMIM_ID : 601284;
OMIM_phenotype : Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4776Exomiser_gene_pheno_score : 0.4776
Human_pheno_evidence : Brachydactyly; Clubbing; Telangiectasia, hereditary hemorrhagic, type 2
Mouse_pheno_evidence : Craniosynostosis; microcephaly
Fish_pheno_evidence : Craniosynostosis; basibranchial condensed, abnormal
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:51906945-51923361; 12:51912383-51923361; 1[...]P_loss_coord : 12:51906945-51923361; 12:51912383-51923361; 12:51912456-51920913; 12:51912466-51912545; 12:51912466-51920903; 12:51912476-51914093; 12:51913080-51913790; 12:51913080-51916253; 12:51913090-51916243; 12:51913540-51919135; 12:51913955-51919135; 12:51916017-51916253; 12:51920692-51920903; 12:51920740-51920893; 12:51920740-51920913; 12:51920760-51923361
P_loss_source : HI3:ACVRL1; dbVar:nssv15149447; dbVar:nssv15151618; dbVar:nssv15151619; dbVar:nssv15151620; dbVar:nssv15151908; dbVar:nssv15151973; dbVar:nssv15770049; dbVar:nssv15770674; dbVar:nssv16214579; dbVar:nssv16214609; dbVar:nssv17971432; dbVar:nssv17972409; dbVar:nssv17974410; dbVar:nssv18790984; morbid:ACVRL1
P_loss_phen : Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) AD
P_loss_hpo : .
306P_snvindel_nb : 306
P_snvindel_phen : ACVRL1-Related_Disorders; ACVRL1-related_condition; Abnormality_of_the_pulmonary_vasculature; Cardiovascular_phenotype; Epistaxis; Pulmonary_arterial_hypertension; Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia; Pulmonary_hypertension,_primary,_1; See_cases; Telangiectasia,_hereditary_hemorrhagic,_type_1; Telangiectasia,_hereditary_hemorrhagic,_type_2; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC13Gene_name : HOXC13;
LOEUF_bin : 3
GnomAD_pLI : 4.2048e-01
ExAC_pLI : 3.7936e-01
HI : .
TS : .
DDD_HI_percent : 32.88
ACMG : .
ExAC_cnvZ : 0.643851210536282
ExAC_delZ : 0.219337255344299
ExAC_dupZ : 0.589158254991908
ExAC_synZ : 2.62003578878246
ExAC_misZ : 2.62980983559668
GenCC_disease : ectodermal dysplasia 9, hair/nail type; pure hair and nail ectodermal dysplasia
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 23063621; 23063621[PMID]; 23315978; 23461661; 9420327
NCBI_gene_ID : 3229
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_017410
Tx_version : 3
Tx_start : 53938830
Tx_end : 53946544
Exon_count : 2
Overlapped_tx_length : 7714
Overlapped_CDS_length : 993
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53938830
Intersect_end : 53946544
142976; OMIM_ID : 142976;
OMIM_phenotype : Ectodermal dysplasia 9, hair/nail type, 614931 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6644Exomiser_gene_pheno_score : 0.6644
Human_pheno_evidence : Brachydactyly; Ectodermal dysplasia 9, hair/nail type; Nail dysplasia
Mouse_pheno_evidence : Brachydactyly; deformed nails
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:53938831-53946544P_loss_coord : 12:53938831-53946544
P_loss_source : morbid:HOXC13
P_loss_phen : Ectodermal dysplasia 9, hair; nail type, 614931 (3) AR
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP2B1Gene_name : ATP2B1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 6.13
ACMG : .
ExAC_cnvZ : 0.975772760152183
ExAC_delZ : 0.401497821969091
ExAC_dupZ : 1.12964302426027
ExAC_synZ : 0.435807738757206
ExAC_misZ : 5.16234940695875
GenCC_disease : intellectual developmental disorder, autosomal dominant 66
GenCC_moi : AD
GenCC_classification : Moderate; Strong
GenCC_pmid : 15178683; 28135719; 28191890; 31785789; 33077954; 35358416
NCBI_gene_ID : 490
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_001366524
Tx_version : 1
Tx_start : 89588048
Tx_end : 89709366
Exon_count : 22
Overlapped_tx_length : 121318
Overlapped_CDS_length : 3750
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89588048
Intersect_end : 89709366
108731; OMIM_ID : 108731;
OMIM_phenotype : Intellectual developmental disorder, AD 66, 619910 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6290Exomiser_gene_pheno_score : 0.6290
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Intellectual developmental disorder, autosomal dominant 66; Plagiocephaly; Toe clinodactyly
Mouse_pheno_evidence : Brachydactyly; hindlimb paralysis
Fish_pheno_evidence : Craniosynostosis; ceratobranchial cartilage disrupted ossification, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:89611381-89708838P_loss_coord : 12:89611381-89708838
P_loss_source : morbid:ATP2B1
P_loss_phen : Intellectual developmental disorder, AD 66, 619910 (3) AD
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : Intellectual_developmental_disorder,_autosomal_dominant_66; Neurodevelopmental_disorder
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SMARCC2Gene_name : SMARCC2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 20.29
ACMG : .
ExAC_cnvZ : 1.19601277396959
ExAC_delZ : 0.788728078637652
ExAC_dupZ : 1.17112134233694
ExAC_synZ : -0.0101002391837608
ExAC_misZ : 4.43932089052597
GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 8
GenCC_moi : AD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 23643363; 25590979; 27392482; 27620904; 30580808; 30580808[PMID]
NCBI_gene_ID : 6601
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001330288
Tx_version : 2
Tx_start : 56162358
Tx_end : 56189483
Exon_count : 29
Overlapped_tx_length : 27125
Overlapped_CDS_length : 3738
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56162358
Intersect_end : 56189483
601734; OMIM_ID : 601734;
OMIM_phenotype : Coffin-Siris syndrome 8, 618362 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5271Exomiser_gene_pheno_score : 0.5271
Human_pheno_evidence : Brachydactyly; Coffin-Siris syndrome; Short 5th finger
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
12:56171322-56189483P_loss_coord : 12:56171322-56189483
P_loss_source : morbid:SMARCC2
P_loss_phen : Coffin-Siris syndrome 8, 618362 (3) AD
P_loss_hpo : .
14P_snvindel_nb : 14
P_snvindel_phen : Coffin-Siris_syndrome_8; Neurodevelopmental_delay; SMARCC2-related_BAFopathy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DHX37Gene_name : DHX37;
LOEUF_bin : 1
GnomAD_pLI : 9.9252e-01
ExAC_pLI : 9.7848e-01
HI : .
TS : .
DDD_HI_percent : 66.34
ACMG : .
ExAC_cnvZ : -0.563904411957432
ExAC_delZ : 0.22213011770119
ExAC_dupZ : -0.90153249437189
ExAC_synZ : 0.136657816061683
ExAC_misZ : 2.26887569301177
GenCC_disease : 46,XY complete gonadal dysgenesis; 46,XY partial gonadal dysgenesis; 46,XY sex reversal 11; neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; testicular regression syndrome
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 26539891; 31256877; 31287541[PMID]; 31337883[PMID]
NCBI_gene_ID : 57647
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_005253590
Tx_version : 4
Tx_start : 124947908
Tx_end : 124989131
Exon_count : 26
Overlapped_tx_length : 41223
Overlapped_CDS_length : 3528
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124947908
Intersect_end : 124989131
617362; OMIM_ID : 617362;
OMIM_phenotype : 46XY sex reversal 11, 273250 (3) AD;
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6315Exomiser_gene_pheno_score : 0.6315
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; Plagiocephaly; Small nail
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.06
.RE_gene : .
12:124952814-124989131P_loss_coord : 12:124952814-124989131
P_loss_source : morbid:DHX37
P_loss_phen : 46XY sex reversal 11, 273250 (3) AD; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : 46,XY_sex_reversal_11
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TUBA1AGene_name : TUBA1A;
LOEUF_bin : 1
GnomAD_pLI : 9.6654e-01
ExAC_pLI : 8.3654e-01
HI : 0
TS : 0
DDD_HI_percent : 4.83
ACMG : .
ExAC_cnvZ : 1.71063557993542
ExAC_delZ : 1.34314900008626
ExAC_dupZ : 1.46630702544545
ExAC_synZ : 2.04104248502179
ExAC_misZ : 6.10695831604698
GenCC_disease : intellectual disability, autosomal dominant 40; lissencephaly due to TUBA1A mutation; tubulinopathy-associated dysgyria
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 17218254; 17584854; 18669490[PMID]_18954413[PMID]_22264709[PMID]; 18728072; 18954413; 20466733; 20603323; 21403111; 26130693; 26130693[PMID]; 30016746; 30517687; 30744660; 33649541
NCBI_gene_ID : 7846
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001270399
Tx_version : 2
Tx_start : 49184794
Tx_end : 49189080
Exon_count : 4
Overlapped_tx_length : 4286
Overlapped_CDS_length : 1356
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49184794
Intersect_end : 49189080
602529; OMIM_ID : 602529;
OMIM_phenotype : Lissencephaly 3, 611603 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6269Exomiser_gene_pheno_score : 0.6269
Human_pheno_evidence : Brachydactyly; Congenital fibrosis of extraocular muscles; Craniosynostosis; Hand oligodactyly; Plagiocephaly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:49184795-49189080P_loss_coord : 12:49184795-49189080
P_loss_source : morbid:TUBA1A
P_loss_phen : Lissencephaly 3, 611603 (3) AD
P_loss_hpo : .
89P_snvindel_nb : 89
P_snvindel_phen : Abnormal_brainstem_morphology; Abnormal_cortical_gyration; Abnormality_of_neuronal_migration; Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D; Cerebral_palsy; Congenital_bilateral_perisylvian_syndrome; Congenital_fibrosis_of_extraocular_muscles; Corpus_callosum,_agenesis_of; Cryptorchidism; Decreased_head_circumference; Global_developmental_delay; Inborn_genetic_diseases; Lissencephaly; Lissencephaly_due_to_TUBA1A_mutation; Lissencephaly_type_3; Neurodevelopmental_disorder; Rare_genetic_intellectual_disability; Seizure; TUBA1A-associated_tubulinopathy; TUBA1A-related_condition; Tubulinopathy; Tubulinopathy-associated_dysgyria; West_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HNF1AGene_name : HNF1A;
LOEUF_bin : 1
GnomAD_pLI : 9.6115e-01
ExAC_pLI : 9.6966e-01
HI : 3
TS : 0
DDD_HI_percent : 35.48
ACMG : ACMG
ExAC_cnvZ : -0.170697191793204
ExAC_delZ : 0.412997980718427
ExAC_dupZ : -0.44416242953495
ExAC_synZ : -1.44023068288233
ExAC_misZ : 1.17267905280062
GenCC_disease : diabetes mellitus, noninsulin-dependent; hyperinsulinism due to HNF1A deficiency; maturity-onset diabetes of the young; maturity-onset diabetes of the young type 3; monogenic diabetes; nonpapillary renal cell carcinoma; type 1 diabetes mellitus 20
GenCC_moi : AD
GenCC_classification : Definitive; No Known Disease Relationship; Strong; Supportive
GenCC_pmid : 10417964; 15649945; 15928245; 16917892; 18003757; 21844708[PMID]_22498247[PMID]; 22432108; 22802087[PMID]_25733449[PMID]; 8945470; 9097962; 9112026
NCBI_gene_ID : 6927
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_024449168
Tx_version : 2
Tx_start : 120978542
Tx_end : 121002512
Exon_count : 9
Overlapped_tx_length : 23970
Overlapped_CDS_length : 1989
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120978542
Intersect_end : 121002512
142410; OMIM_ID : 142410;
OMIM_phenotype : Diabetes mellitus, insulin-dependent, 20, 612520 (3);
Hepatic adenoma, somatic, 142330 (3);
MODY, type III, 600496 (3) AD;
Renal cell carcinoma, 144700 (3);
(Diabetes mellitus, insulin-dependent), 222100 (3) AR;
(Diabetes mellitus, noninsulin-dependent, 2), 125853 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:120978543-121002512; 12:120978544-12100251[...]P_loss_coord : 12:120978543-121002512; 12:120978544-121002512; 12:120999281-120999453
P_loss_source : CLN:794043; HI3:HNF1A; morbid:HNF1A
P_loss_phen : Diabetes mellitus, insulin-dependent, 20, 612520 (3); Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3) AD; Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 222100 (3) AR; Diabetes mellitus, noninsulin-dependent, 2, 125853 (3) AD; |Maturity_onset_diabetes_mellitus_in_young
P_loss_hpo : HP:0004904
157P_snvindel_nb : 157
P_snvindel_phen : Clear_cell_carcinoma_of_kidney; DiGeorge_syndrome; Diabetes_mellitus; Diabetes_mellitus_type_1; HNF1A-related_condition; Hepatic_adenomas,_familial; Hyperinsulinism_due_to_HNF1A_deficiency; Maturity-onset_diabetes_of_the_young_type_3; Maturity_onset_diabetes_mellitus_in_young; Monogenic_diabetes; Nonpapillary_renal_cell_carcinoma; Type_1_diabetes_mellitus_20; Type_2_diabetes_mellitus; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SETD1BGene_name : SETD1B;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 2.2456e-02
HI : .
TS : .
DDD_HI_percent : 63.56
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.958413334281874
ExAC_misZ : 1.48188111834667
GenCC_disease : intellectual developmental disorder with seizures and language delay
GenCC_moi : AD
GenCC_classification : Moderate; Strong
GenCC_pmid : 27106595; 29276005; 29322246; 31110234; 31440728; 344631
NCBI_gene_ID : 23067
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_047428553
Tx_version : 1
Tx_start : 121790154
Tx_end : 121832656
Exon_count : 17
Overlapped_tx_length : 42502
Overlapped_CDS_length : 5901
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121790154
Intersect_end : 121832656
611055; OMIM_ID : 611055;
OMIM_phenotype : Intellectual developmental disorder with seizures and language delay, 619000 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5909Exomiser_gene_pheno_score : 0.5909
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Flat occiput; Intellectual developmental disorder with seizures and language delay; Tapered finger
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:121804374-121832656P_loss_coord : 12:121804374-121832656
P_loss_source : morbid:SETD1B
P_loss_phen : Intellectual developmental disorder with seizures and language delay, 619000 (3) AD
P_loss_hpo : .
27P_snvindel_nb : 27
P_snvindel_phen : Inborn_genetic_diseases; Intellectual_developmental_disorder_with_seizures_and_language_delay; Neurodevelopmental_delay; Neurodevelopmental_disorder; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WNT1Gene_name : WNT1;
LOEUF_bin : 3
GnomAD_pLI : 3.2630e-01
ExAC_pLI : 1.0188e-01
HI : .
TS : .
DDD_HI_percent : 1.94
ACMG : .
ExAC_cnvZ : 0.938150248988854
ExAC_delZ : 0.489107818319706
ExAC_dupZ : 0.89157295497882
ExAC_synZ : 3.03887244746425
ExAC_misZ : 3.78431743868561
GenCC_disease : idiopathic juvenile osteoporosis; osteogenesis imperfecta type 15; osteogenesis imperfecta type 3; osteogenesis imperfecta type 4
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 2202907; 23434763; 23434763[PMID]_25046257[PMID]; 23499309; 23499310; 23499310[PMID]_25046257[PMID]; 23656646; 26671912; 28378289; 28866630; 29620724; 30246918; 30283887; 30896082; 32369212; 33195954; 36595228
NCBI_gene_ID : 7471
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_005430
Tx_version : 4
Tx_start : 48978321
Tx_end : 48982620
Exon_count : 4
Overlapped_tx_length : 4299
Overlapped_CDS_length : 1113
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48978321
Intersect_end : 48982620
164820; OMIM_ID : 164820;
OMIM_phenotype : Osteogenesis imperfecta, type XV, 615220 (3) AR;
(Osteoporosis, early-onset, susceptibility to, AD), 615221 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.6186Exomiser_gene_pheno_score : 0.6186
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal parietal bone morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:48978322-48982620P_loss_coord : 12:48978322-48982620
P_loss_source : morbid:WNT1
P_loss_phen : Osteogenesis imperfecta, type XV, 615220 (3) AR; Osteoporosis, early-onset, susceptibility to, AD, 615221 (3) AD
P_loss_hpo : .
18P_snvindel_nb : 18
P_snvindel_phen : Inborn_genetic_diseases; Osteogenesis_imperfecta; Osteogenesis_imperfecta_type_15; Osteoporosis
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SCYL2Gene_name : SCYL2;
LOEUF_bin : 1
GnomAD_pLI : 7.7114e-02
ExAC_pLI : 9.3183e-01
HI : .
TS : .
DDD_HI_percent : 14.73
ACMG : .
ExAC_cnvZ : 0.0844537919381119
ExAC_delZ : 1.08488625973138
ExAC_dupZ : -0.4265986838066
ExAC_synZ : 0.253644490191451
ExAC_misZ : 0.693787524369354
GenCC_disease : arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 26203146; 29437892; 30125339; 31960134
NCBI_gene_ID : 6358
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001330253
Tx_version : 2
Tx_start : 100267176
Tx_end : 100341715
Exon_count : 19
Overlapped_tx_length : 74539
Overlapped_CDS_length : 2802
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100267176
Intersect_end : 100341715
616365; OMIM_ID : 616365;
OMIM_phenotype : Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5942Exomiser_gene_pheno_score : 0.5942
Human_pheno_evidence : Craniosynostosis; Neurogenic arthrogryposis multiplex congenita; Plagiocephaly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:100267177-100341715P_loss_coord : 12:100267177-100341715
P_loss_source : morbid:SCYL2
P_loss_phen : Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3) AR
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Arthrogryposis_multiplex_congenita_4,_neurogenic,_with_agenesis_of_the_corpus_callosum; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYF5Gene_name : MYF5;
LOEUF_bin : 6
GnomAD_pLI : 2.2918e-04
ExAC_pLI : 1.9034e-03
HI : .
TS : .
DDD_HI_percent : 1.35
ACMG : .
ExAC_cnvZ : 0.402995314067225
ExAC_delZ : -0.185541022479079
ExAC_dupZ : 0.674584967225173
ExAC_synZ : 0.209396457895145
ExAC_misZ : 0.396598508561865
GenCC_disease : ophthalmoplegia, external, with rib and vertebral anomalies
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 19531352; 29887215; 8918877
NCBI_gene_ID : 4617
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_005593
Tx_version : 3
Tx_start : 80716911
Tx_end : 80719671
Exon_count : 3
Overlapped_tx_length : 2760
Overlapped_CDS_length : 768
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80716911
Intersect_end : 80719671
159990; OMIM_ID : 159990;
OMIM_phenotype : Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6428Exomiser_gene_pheno_score : 0.6428
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology; abnormal sternum ossification
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:80716912-80719671P_loss_coord : 12:80716912-80719671
P_loss_source : morbid:MYF5
P_loss_phen : Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:80502697-80806958
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IGF1Gene_name : IGF1;
LOEUF_bin : 4
GnomAD_pLI : 2.7160e-01
ExAC_pLI : 4.6952e-01
HI : .
TS : .
DDD_HI_percent : 0.1
ACMG : .
ExAC_cnvZ : 0.275679167635403
ExAC_delZ : 0.106443699917254
ExAC_dupZ : 0.289083410675428
ExAC_synZ : -0.513959432094597
ExAC_misZ : 2.0395837133409
GenCC_disease : growth delay due to insulin-like growth factor type 1 deficiency
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 14684690; 15769976; 19773405; 20668042; 22832530; 31230720; 8857020; 8857020[PMID]_14684690[PMID]
NCBI_gene_ID : 3479
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_017019259
Tx_version : 2
Tx_start : 102417490
Tx_end : 102481839
Exon_count : 4
Overlapped_tx_length : 64349
Overlapped_CDS_length : 639
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102417490
Intersect_end : 102481839
147440; OMIM_ID : 147440;
OMIM_phenotype : Insulin-like growth factor I deficiency, 608747 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6240Exomiser_gene_pheno_score : 0.6240
Human_pheno_evidence : Brachydactyly; Clinodactyly; Growth delay due to insulin-like growth factor type 1 deficiency
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal long bone hypertrophic chondrocyte zone; delayed endochondral bone ossification
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.08
.RE_gene : .
12:102417491-102481839; 12:102419490-102480381P_loss_coord : 12:102417491-102481839; 12:102419490-102480381
P_loss_source : dbVar:nssv17975160; morbid:IGF1
P_loss_phen : Insulin-like growth factor I deficiency, 608747 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
STAC3Gene_name : STAC3;
LOEUF_bin : 4
GnomAD_pLI : 1.7244e-04
ExAC_pLI : 4.8783e-03
HI : .
TS : .
DDD_HI_percent : 19.43
ACMG : .
ExAC_cnvZ : -0.946080720203707
ExAC_delZ : -0.829746098469288
ExAC_dupZ : -1.11792329107077
ExAC_synZ : 0.899120497967634
ExAC_misZ : 0.779664951574005
GenCC_disease : Bailey-Bloch congenital myopathy
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 23736855; 23736855[PMID]; 28411587; 28777491; 30168660; 33060286; 33820833
NCBI_gene_ID : 246329
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_145064
Tx_version : 3
Tx_start : 57243457
Tx_end : 57251187
Exon_count : 12
Overlapped_tx_length : 7730
Overlapped_CDS_length : 1095
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57243457
Intersect_end : 57251187
615521; OMIM_ID : 615521;
OMIM_phenotype : Congenital myopathy 13, 255995 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6171Exomiser_gene_pheno_score : 0.6171
Human_pheno_evidence : Brachycephaly; Congenital myopathy 13; Craniosynostosis
Mouse_pheno_evidence : Brachydactyly; abnormal sternum morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:57244088-57251187P_loss_coord : 12:57244088-57251187
P_loss_source : morbid:STAC3
P_loss_phen : Congenital myopathy 13, 255995 (3) AR
P_loss_hpo : .
8P_snvindel_nb : 8
P_snvindel_phen : Bailey-Bloch_congenital_myopathy; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT1Gene_name : KRT1;
LOEUF_bin : 1
GnomAD_pLI : 7.3629e-01
ExAC_pLI : 9.7362e-01
HI : .
TS : .
DDD_HI_percent : 61
ACMG : .
ExAC_cnvZ : 1.20326280736182
ExAC_delZ : 1.07998315214038
ExAC_dupZ : 0.943547389334036
ExAC_synZ : 1.2122663328743
ExAC_misZ : 0.901082611604732
GenCC_disease : annular epidermolytic ichthyosis; congenital reticular ichthyosiform erythroderma; diffuse nonepidermolytic palmoplantar keratoderma; epidermolytic ichthyosis; ichthyosis hystrix of Curth-Macklin; ichthyosis, annular epidermolytic 1; striate palmoplantar keratoderma
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 10053007; 10053007[PMID]; 10844506; 11286616; 11286630; 11558869; 11982762[PMID]; 12406346; 12406348; 12603866; 1380725[PMID]_7512983[PMID]; 14708600; 15214894; 16361731; 20500210; 20977447; 21271994; 22250628; 22375063; 23132931; 25774499; 25774499[PMID]; 26120802; 26581228; 28121638; 29489036[PMID]; 30288772; 32898404; 7507151; 7511022; 7512983; 8751983; NULL
NCBI_gene_ID : 3848
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_006121
Tx_version : 4
Tx_start : 52674735
Tx_end : 52680407
Exon_count : 9
Overlapped_tx_length : 5672
Overlapped_CDS_length : 1935
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52674735
Intersect_end : 52680407
139350; OMIM_ID : 139350;
OMIM_phenotype : Epidermolytic hyperkeratosis 1, 113800 (3) AD;
Ichthyosis histrix, Curth-Macklin type, 146590 (3) AD;
Ichthyosis, annular epidermolytic 2, 620148 (3) AD;
Keratosis palmoplantaris striata III, 607654 (3);
Palmoplantar keratoderma, epidermolytic, 2, 620411 (3) AD;
Palmoplantar keratoderma, nonepidermolytic, 600962 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4866Exomiser_gene_pheno_score : 0.4866
Human_pheno_evidence : Brachydactyly; Clubbing; Epidermolytic palmoplantar keratoderma
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
12:52674736-52680407P_loss_coord : 12:52674736-52680407
P_loss_source : morbid:KRT1
P_loss_phen : Epidermolytic hyperkeratosis 1, 113800 (3) AD; Ichthyosis histrix, Curth-Macklin type, 146590 (3) AD; Ichthyosis, annular epidermolytic 2, 620148 (3) AD; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 2, 620411 (3) AD; Palmoplantar keratoderma, nonepidermolytic, 600962 (3) AD
P_loss_hpo : .
14P_snvindel_nb : 14
P_snvindel_phen : Annular_epidermolytic_ichthyosis; Bullous_ichthyosiform_erythroderma; Diffuse_nonepidermolytic_palmoplantar_keratoderma; Epidermolytic_hyperkeratosis_1; Epidermolytic_palmoplantar_keratoderma; Ichthyosis,_annular_epidermolytic,_2; Ichthyosis_hystrix_of_Curth-Macklin; KRT1-related_condition; Keratosis_palmoplantaris_striata_3; Palmoplantar_keratoderma,_epidermolytic,_2
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SYT1Gene_name : SYT1;
LOEUF_bin : 2
GnomAD_pLI : 6.0038e-01
ExAC_pLI : 8.3718e-01
HI : .
TS : .
DDD_HI_percent : 3.9
ACMG : .
ExAC_cnvZ : 0.43692817994546
ExAC_delZ : -0.103673409614743
ExAC_dupZ : 0.665917463722675
ExAC_synZ : 0.518726014390384
ExAC_misZ : 2.91822596711159
GenCC_disease : infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome; intellectual disability, autosomal dominant 40
GenCC_moi : AD
GenCC_classification : Moderate; Strong
GenCC_pmid : 22031440; 25705886; 25712080; 28135719; 30107533
NCBI_gene_ID : 6857
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_001135805
Tx_version : 2
Tx_start : 78863981
Tx_end : 79452008
Exon_count : 12
Overlapped_tx_length : 588027
Overlapped_CDS_length : 1269
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 78863981
Intersect_end : 79452008
185605; OMIM_ID : 185605;
OMIM_phenotype : Baker-Gordon syndrome, 618218 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5886Exomiser_gene_pheno_score : 0.5886
Human_pheno_evidence : 2-3 toe syndactyly; Brachydactyly; Brachyturricephaly; Craniosynostosis; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral content
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.07
.RE_gene : .
12:79045692-79452008P_loss_coord : 12:79045692-79452008
P_loss_source : morbid:SYT1
P_loss_phen : Baker-Gordon syndrome, 618218 (3) AD
P_loss_hpo : .
7P_snvindel_nb : 7
P_snvindel_phen : Inborn_genetic_diseases; Infantile_hypotonia-oculomotor_anomalies-hyperkinetic_movements-developmental_delay_syndrome; SYT1-associated_neurodevelopmental_disorder; Syndromic_intellectual_disability
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP2A2Gene_name : ATP2A2;
LOEUF_bin : 0
GnomAD_pLI : 9.9945e-01
ExAC_pLI : 9.9823e-01
HI : .
TS : .
DDD_HI_percent : 26.18
ACMG : .
ExAC_cnvZ : 0.675450984617043
ExAC_delZ : 0.958118507743918
ExAC_dupZ : 0.381362701577102
ExAC_synZ : -0.0400834294048719
ExAC_misZ : 5.54243218279317
GenCC_disease : Darier disease; acrokeratosis verruciformis
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10080178; 10441324; 10441325; 10970890; 11387203; 11389134; 12072062; 12542527; 12542527[PMID]; 17635506; 20518781; 22814319; 22909361[PMID]_23356892[PMID]_23621824[PMID]; 24336169; 25622760; 28498512; 30968598;  10080178
NCBI_gene_ID : 488
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_170665
Tx_version : 4
Tx_start : 110281246
Tx_end : 110351093
Exon_count : 20
Overlapped_tx_length : 69847
Overlapped_CDS_length : 3129
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110281246
Intersect_end : 110351093
108740; OMIM_ID : 108740;
OMIM_phenotype : Acrokeratosis verruciformis, 101900 (3) AD;
Darier disease, 124200 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5615Exomiser_gene_pheno_score : 0.5615
Human_pheno_evidence : Acrokeratosis verruciformis of Hopf; Brachydactyly; Nail dystrophy
Mouse_pheno_evidence : Brachydactyly; toenail hyperkeratosis
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.07
.RE_gene : .
12:110281247-110351093; 12:110281791-11028279[...]P_loss_coord : 12:110281247-110351093; 12:110281791-110282795; 12:110292001-110292144
P_loss_source : dbVar:nssv17173016; dbVar:nssv18791999; morbid:ATP2A2
P_loss_phen : Acrokeratosis verruciformis, 101900 (3) AD; Darier disease, 124200 (3) AD
P_loss_hpo : .
25P_snvindel_nb : 25
P_snvindel_phen : Acrokeratosis_verruciformis_of_Hopf; Darier_disease,_acral_hemorrhagic_type; Darier_disease,_segmental; Keratosis_follicularis
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MVKGene_name : MVK;
LOEUF_bin : 2
GnomAD_pLI : 1.6679e-01
ExAC_pLI : 4.2161e-02
HI : .
TS : .
DDD_HI_percent : 64.65
ACMG : .
ExAC_cnvZ : -1.14639971187456
ExAC_delZ : -0.775331307231998
ExAC_dupZ : -1.24210676940358
ExAC_synZ : 0.780338429753003
ExAC_misZ : 1.20406389227485
GenCC_disease : disseminated superficial actinic porokeratosis; hyperimmunoglobulinemia D with periodic fever; mevalonic aciduria; porokeratosis 3, disseminated superficial actinic type; porokeratosis of Mibelli
GenCC_moi : AD; AR; MT
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 11313769[PMID]_10369262[PMID]; 12634869; 15536479; 16835861; 17105862; 19011501; 19531764; 22246419; 22983302[PMID]_26202976[PMID]; 23834120; 25120591; 26202976; 26202976[PMID]; 26986117; 32822427; NULL
NCBI_gene_ID : 4598
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_047428873
Tx_version : 1
Tx_start : 109573271
Tx_end : 109598125
Exon_count : 11
Overlapped_tx_length : 24854
Overlapped_CDS_length : 1491
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109573271
Intersect_end : 109598125
251170; OMIM_ID : 251170;
OMIM_phenotype : Hyper-IgD syndrome, 260920 (3) AR;
Mevalonic aciduria, 610377 (3) AR;
Porokeratosis 3, multiple types, 175900 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5800Exomiser_gene_pheno_score : 0.5800
Human_pheno_evidence : Craniosynostosis; Large fontanelles; Mevalonic aciduria
Mouse_pheno_evidence : Craniosynostosis; microphthalmia
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.08
.RE_gene : .
12:109573424-109579904; 12:109573794-10959812[...]P_loss_coord : 12:109573424-109579904; 12:109573794-109598125; 12:109575979-109576165; 12:109595009-109596577; 12:109595009-109596597
P_loss_source : dbVar:nssv17171764; dbVar:nssv17968707; dbVar:nssv17972090; dbVar:nssv18789187; morbid:MVK
P_loss_phen : Hyper-IgD syndrome, 260920 (3) AR; Mevalonic aciduria, 610377 (3) AR; Porokeratosis 3, multiple types, 175900 (3) AD
P_loss_hpo : .
40P_snvindel_nb : 40
P_snvindel_phen : Autoinflammatory_syndrome; Hyperimmunoglobulin_D_with_periodic_fever; Inborn_genetic_diseases; MVK-Related_Disorders; MVK-related_condition; Methylmalonic_aciduria,_cblB_type; Mevalonic_aciduria; Porokeratosis_3,_disseminated_superficial_actinic_type; See_cases; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLI1Gene_name : GLI1;
LOEUF_bin : 5
GnomAD_pLI : 7.6639e-14
ExAC_pLI : 1.9483e-06
HI : .
TS : .
DDD_HI_percent : 1.98
ACMG : .
ExAC_cnvZ : 0.634749424087504
ExAC_delZ : 0.237568190713965
ExAC_dupZ : 0.689443024253449
ExAC_synZ : 0.100273356642817
ExAC_misZ : 0.304913718218034
GenCC_disease : Ellis-van Creveld syndrome; polydactyly of a biphalangeal thumb; polydactyly, postaxial, type A8; postaxial polydactyly type A
GenCC_moi : AD; AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 28973407[PMID]; 30620395[PMID]; 31549748; 31549748[PMID]
NCBI_gene_ID : 2735
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_005269
Tx_version : 3
Tx_start : 57459784
Tx_end : 57472268
Exon_count : 12
Overlapped_tx_length : 12484
Overlapped_CDS_length : 3321
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57459784
Intersect_end : 57472268
165220; OMIM_ID : 165220;
OMIM_phenotype : Polydactyly, postaxial, type A8, 618123 (3) AR;
Polydactyly, preaxial I, 174400 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4810Exomiser_gene_pheno_score : 0.4810
Human_pheno_evidence : Brachydactyly; Polydactyly, postaxial, type A8; Postaxial polydactyly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
12:57460277-57472268P_loss_coord : 12:57460277-57472268
P_loss_source : morbid:GLI1
P_loss_phen : Polydactyly, postaxial, type A8, 618123 (3) AR; Polydactyly, preaxial I, 174400 (3) AR
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Polydactyly,_postaxial,_type_A8
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TCTN1Gene_name : TCTN1;
LOEUF_bin : 6
GnomAD_pLI : 1.0708e-15
ExAC_pLI : 1.8686e-09
HI : 30
TS : 0
DDD_HI_percent : 75.52
ACMG : .
ExAC_cnvZ : 0.204580967017836
ExAC_delZ : 0.248591976975973
ExAC_dupZ : 0.103349206949547
ExAC_synZ : 0.438149842096659
ExAC_misZ : 0.451975903647264
GenCC_disease : Joubert syndrome; Joubert syndrome 13; Meckel syndrome
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 21725307; 21725307[PMID]_20301500[PMID]; 22693042; 249558; 26477546; 27894351; 28631893[PMID]
NCBI_gene_ID : 79600
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001082538
Tx_version : 3
Tx_start : 110614128
Tx_end : 110649430
Exon_count : 15
Overlapped_tx_length : 35302
Overlapped_CDS_length : 1779
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110614128
Intersect_end : 110649430
609863; OMIM_ID : 609863;
OMIM_phenotype : Joubert syndrome 13, 614173 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : .
0.8056Exomiser_gene_pheno_score : 0.8056
Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; anophthalmia; polydactyly
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.1
.RE_gene : .
12:110614404-110626361; 12:110626343-11062651[...]P_loss_coord : 12:110614404-110626361; 12:110626343-110626512; 12:110626343-110636521; 12:110626343-110642409; 12:110641950-110645110
P_loss_source : dbVar:nssv16212901; dbVar:nssv17968938; dbVar:nssv18787499; dbVar:nssv18787500; dbVar:nssv18792853
P_loss_phen : .
P_loss_hpo : .
15P_snvindel_nb : 15
P_snvindel_phen : Familial_aplasia_of_the_vermis; Global_developmental_delay; Joubert_syndrome_13; Meckel-Gruber_syndrome; Typical_Joubert_syndrome_MRI_findings
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
APAF1Gene_name : APAF1;
LOEUF_bin : 2
GnomAD_pLI : 9.6242e-06
ExAC_pLI : 3.8207e-05
HI : .
TS : .
DDD_HI_percent : 3.12
ACMG : .
ExAC_cnvZ : 1.55133585495829
ExAC_delZ : 0.909127743536381
ExAC_dupZ : 1.5692320875873
ExAC_synZ : -1.06256541416095
ExAC_misZ : 0.978641634777591
GenCC_disease : depressive disorder
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 317
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_181861
Tx_version : 2
Tx_start : 98645289
Tx_end : 98735433
Exon_count : 27
Overlapped_tx_length : 90144
Overlapped_CDS_length : 3747
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98645289
Intersect_end : 98735433
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.8714Exomiser_gene_pheno_score : 0.8714
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal digit morphology; abnormal frontal bone morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DNM1LGene_name : DNM1L;
LOEUF_bin : 2
GnomAD_pLI : 5.6753e-04
ExAC_pLI : 1.7695e-01
HI : .
TS : .
DDD_HI_percent : 4.41
ACMG : .
ExAC_cnvZ : 1.37238395113123
ExAC_delZ : 0.719433950000762
ExAC_dupZ : 1.42536049302604
ExAC_synZ : 0.871006768337458
ExAC_misZ : 3.67833495490957
GenCC_disease : Leigh syndrome; autosomal dominant optic atrophy, classic form; encephalopathy due to mitochondrial and peroxisomal fission defect; encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; optic atrophy 5
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 17460227; 17460227[PMID]; 20696759; 26604000; 26825290; 26931468; 26992161; 27145208; 27328748; 28969390; 28969390[PMID]; 30801875; 30850373
NCBI_gene_ID : 10059
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001278464
Tx_version : 2
Tx_start : 32679300
Tx_end : 32745650
Exon_count : 21
Overlapped_tx_length : 66350
Overlapped_CDS_length : 2250
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32679300
Intersect_end : 32745650
603850; OMIM_ID : 603850;
OMIM_phenotype : Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) AR,AD;
Optic atrophy 5, 610708 (3) AD;
OMIM_inheritance : AD; AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4324Exomiser_gene_pheno_score : 0.4324
Human_pheno_evidence : Brachydactyly; Broad hallux; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.12
.RE_gene : .
12:32710958-32745650; 12:32713190-32713391P_loss_coord : 12:32710958-32745650; 12:32713190-32713391
P_loss_source : dbVar:nssv17972710; morbid:DNM1L
P_loss_phen : Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) AR,AD; Optic atrophy 5, 610708 (3) AD
P_loss_hpo : .
16P_snvindel_nb : 16
P_snvindel_phen : Encephalopathy,_lethal,_due_to_defective_mitochondrial_peroxisomal_fission_1; Inborn_genetic_diseases; Obesity; Optic_atrophy_5; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BBS10Gene_name : BBS10;
LOEUF_bin : 7
GnomAD_pLI : 1.7467e-12
ExAC_pLI : 6.7825e-09
HI : .
TS : .
DDD_HI_percent : 59.89
ACMG : .
ExAC_cnvZ : -0.00560720888009984
ExAC_delZ : -0.0740983008161578
ExAC_dupZ : -0.0869277677535592
ExAC_synZ : -1.15458324764394
ExAC_misZ : -1.03424910269064
GenCC_disease : Bardet-Biedl syndrome; Bardet-Biedl syndrome 10
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 16582908; 20177705; 20805367; 23219996[PMID]_23403234[PMID]_20301537[PMID]; 26273430; 26762677; 27659767; 280066
NCBI_gene_ID : 79738
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_024685
Tx_version : 4
Tx_start : 76344473
Tx_end : 76348415
Exon_count : 2
Overlapped_tx_length : 3942
Overlapped_CDS_length : 2172
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76344473
Intersect_end : 76348415
610148; OMIM_ID : 610148;
OMIM_phenotype : Bardet-Biedl syndrome 10, 615987 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4802Exomiser_gene_pheno_score : 0.4802
Human_pheno_evidence : Bardet-Biedl syndrome 10; Brachydactyly; Polydactyly
Mouse_pheno_evidence : Craniosynostosis; abnormal rod electrophysiology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Brachydactyly
PhenoGenius_score : 0.34
.RE_gene : .
12:76344474-76348415; 12:76345804-76348368P_loss_coord : 12:76344474-76348415; 12:76345804-76348368
P_loss_source : dbVar:nssv16213251; morbid:BBS10
P_loss_phen : Bardet-Biedl syndrome 10, 615987 (3) AR
P_loss_hpo : .
124P_snvindel_nb : 124
P_snvindel_phen : Asphyxiating_thoracic_dystrophy_3; BBS10-related_condition; Bardet-Biedl_syndrome; Bardet-Biedl_syndrome_1; Bardet-Biedl_syndrome_10; Bardet-biedl_syndrome_1/10,_digenic; Bardet-biedl_syndrome_6/10,_digenic; Foot_polydactyly; High-frequency_hearing_impairment; Inborn_genetic_diseases; Intellectual_disability; Macular_degeneration; Postaxial_hand_polydactyly; Retinal_dystrophy; Retinitis_pigmentosa
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HECTD4Gene_name : HECTD4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 23.9
ACMG : .
ExAC_cnvZ : 1.2135095128875
ExAC_delZ : 1.73091917776152
ExAC_dupZ : 0.837108243684782
ExAC_synZ : 1.05389741054816
ExAC_misZ : 6.77284440582208
GenCC_disease : neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 36401616
NCBI_gene_ID : 283450
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001109662
Tx_version : 4
Tx_start : 112160194
Tx_end : 112382431
Exon_count : 76
Overlapped_tx_length : 222237
Overlapped_CDS_length : 13287
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112160194
Intersect_end : 112382431
620209; OMIM_ID : 620209;
OMIM_phenotype : Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4945Exomiser_gene_pheno_score : 0.4945
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Frontal bossing; Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum; Tapered finger
Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:112160195-112382431P_loss_coord : 12:112160195-112382431
P_loss_source : morbid:HECTD4
P_loss_phen : Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Neurodevelopmental_disorder_with_seizures,_spasticity,_and_complete_or_partial_agenesis_of_the_corpus_callosum
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ALDH2Gene_name : ALDH2;
LOEUF_bin : 6
GnomAD_pLI : 3.3959e-10
ExAC_pLI : 1.7325e-06
HI : .
TS : .
DDD_HI_percent : 34.74
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.0494808472248952
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.0337977629515114
ExAC_misZ : 1.16736069338417
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 217
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : 5'UTR-3'UTR
Tx : NM_000690
Tx_version : 4
Tx_start : 111766932
Tx_end : 111817532
Exon_count : 13
Overlapped_tx_length : 50600
Overlapped_CDS_length : 1554
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111766932
Intersect_end : 111817532
100650; OMIM_ID : 100650;
OMIM_phenotype : Alcohol sensitivity, acute, 610251 (3) AD;
(Esophageal cancer, alcohol-related, susceptibility to) (3);
(Hangover, susceptibility to), 610251 (3) AD;
(Sublingual nitroglycerin, susceptibility to poor response to) (3);
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.4458Exomiser_gene_pheno_score : 0.4458
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal bone mineralization
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.15
.RE_gene : .
12:111766933-111817532P_loss_coord : 12:111766933-111817532
P_loss_source : morbid:ALDH2
P_loss_phen : Alcohol sensitivity, acute, 610251 (3) AD; Esophageal cancer, alcohol-related, susceptibility to (3); Hangover, susceptibility to, 610251 (3) AD; Sublingual nitroglycerin, susceptibility to poor response to (3)
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NUP107Gene_name : NUP107;
LOEUF_bin : 2
GnomAD_pLI : 2.5555e-09
ExAC_pLI : 1.1984e-06
HI : .
TS : .
DDD_HI_percent : 12.21
ACMG : .
ExAC_cnvZ : -0.395870505158345
ExAC_delZ : 0.887552160191089
ExAC_dupZ : -0.953107836355536
ExAC_synZ : 0.421405243368363
ExAC_misZ : 0.975027553594212
GenCC_disease : 46 XX gonadal dysgenesis; Galloway-Mowat syndrome; Galloway-Mowat syndrome 7; familial idiopathic steroid-resistant nephrotic syndrome; nephrotic syndrome, type 11; ovarian dysgenesis 6
GenCC_moi : AD; AR
GenCC_classification : Limited; Moderate; Strong; Supportive
GenCC_pmid : 242652; 250606; 250664; 250980; 251102; 251334; 25558065; 26411495; 26411495[PMID]; 26485283; 26485283[PMID]; 27190346; 279362; 28135719; 282208; 282440; 28280135; 28280135[PMID]; 29363275; 30179222; 30924587
NCBI_gene_ID : 57122
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_020401
Tx_version : 4
Tx_start : 68686977
Tx_end : 68745809
Exon_count : 28
Overlapped_tx_length : 58832
Overlapped_CDS_length : 2778
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68686977
Intersect_end : 68745809
607617; OMIM_ID : 607617;
OMIM_phenotype : ?Ovarian dysgenesis 6, 618078 (3) AR;
Galloway-Mowat syndrome 7, 618348 (3) AR;
Nephrotic syndrome, type 11, 616730 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.5008Exomiser_gene_pheno_score : 0.5008
Human_pheno_evidence : Brachydactyly; Clinodactyly; Galloway-Mowat syndrome 7
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.09
.RE_gene : .
12:68687067-68702804; 12:68713730-68745809P_loss_coord : 12:68687067-68702804; 12:68713730-68745809
P_loss_source : dbVar:nssv18788740; morbid:NUP107
P_loss_phen : ?Ovarian dysgenesis 6, 618078 (3) AR; Galloway-Mowat syndrome 7, 618348 (3) AR; Nephrotic syndrome, type 11, 616730 (3) AR
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : Early_onset_focal_segmental_glomerulosclerosis; Galloway-Mowat_syndrome_7; Global_developmental_delay; Light_complexion; Nephrotic_syndrome,_type_11
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MAPKAPK5Gene_name : MAPKAPK5;
LOEUF_bin : 2
GnomAD_pLI : 3.5435e-01
ExAC_pLI : 2.3423e-02
HI : .
TS : .
DDD_HI_percent : 17.55
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.745246747566451
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.273639933339741
ExAC_misZ : 1.86871198855392
GenCC_disease : neurocardiofaciodigital syndrome
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 33442026; 36581449
NCBI_gene_ID : 8550
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12-q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001371479
Tx_version : 1
Tx_start : 111842227
Tx_end : 111902222
Exon_count : 16
Overlapped_tx_length : 59995
Overlapped_CDS_length : 1440
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111842227
Intersect_end : 111902222
606723; OMIM_ID : 606723;
OMIM_phenotype : Neurocardiofaciodigital syndrome, 619869 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4996Exomiser_gene_pheno_score : 0.4996
Human_pheno_evidence : Brachydactyly; Neurocardiofaciodigital syndrome; Polydactyly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:111842228-111902222P_loss_coord : 12:111842228-111902222
P_loss_source : morbid:MAPKAPK5
P_loss_phen : Neurocardiofaciodigital syndrome, 619869 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Neurocardiofaciodigital_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RNF10Gene_name : RNF10;
LOEUF_bin : 1
GnomAD_pLI : 1.6406e-01
ExAC_pLI : 5.0296e-01
HI : .
TS : .
DDD_HI_percent : 15.46
ACMG : .
ExAC_cnvZ : 1.13144739315704
ExAC_delZ : 0.755890664119674
ExAC_dupZ : 1.0857264453953
ExAC_synZ : -0.379412316104977
ExAC_misZ : 0.360257582555686
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9921
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001330474
Tx_version : 2
Tx_start : 120534355
Tx_end : 120577588
Exon_count : 17
Overlapped_tx_length : 43233
Overlapped_CDS_length : 2451
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120534355
Intersect_end : 120577588
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.8212Exomiser_gene_pheno_score : 0.8212
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; microcephaly; syndactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CSGene_name : CS;
LOEUF_bin : 1
GnomAD_pLI : 9.8402e-01
ExAC_pLI : 9.9983e-01
HI : .
TS : .
DDD_HI_percent : 7.67
ACMG : .
ExAC_cnvZ : 0.237930578332733
ExAC_delZ : 0.828457137848488
ExAC_dupZ : -0.132908369569379
ExAC_synZ : 2.17158094368447
ExAC_misZ : 3.76806533185326
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1431
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_004077
Tx_version : 3
Tx_start : 56271698
Tx_end : 56300330
Exon_count : 11
Overlapped_tx_length : 28632
Overlapped_CDS_length : 1401
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56271698
Intersect_end : 56300330
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.8137Exomiser_gene_pheno_score : 0.8137
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal digit morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MBD6Gene_name : MBD6;
LOEUF_bin : 0
GnomAD_pLI : 9.9937e-01
ExAC_pLI : 9.6366e-01
HI : .
TS : .
DDD_HI_percent : 33.61
ACMG : .
ExAC_cnvZ : 0.143650138509531
ExAC_delZ : 0.728431928759188
ExAC_dupZ : -0.195473285820672
ExAC_synZ : -0.76771572202453
ExAC_misZ : -1.65011430991243
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 114785
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_006719217
Tx_version : 2
Tx_start : 57520714
Tx_end : 57530148
Exon_count : 13
Overlapped_tx_length : 9434
Overlapped_CDS_length : 3015
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57520714
Intersect_end : 57530148
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.8056Exomiser_gene_pheno_score : 0.8056
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; anophthalmia; polydactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SCN8AGene_name : SCN8A;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 5.53
ACMG : .
ExAC_cnvZ : 1.55259848649566
ExAC_delZ : 1.41631620296498
ExAC_dupZ : 1.25478978341923
ExAC_synZ : -0.192493127867548
ExAC_misZ : 7.85784487477964
GenCC_disease : benign familial infantile epilepsy; cognitive impairment with or without cerebellar ataxia; complex neurodevelopmental disorder; developmental and epileptic encephalopathy, 13; infantile convulsions and choreoathetosis; myoclonus, familial, 2; seizures, benign familial infantile, 5; undetermined early-onset epileptic encephalopathy
GenCC_moi : AD
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 16236810; 19254928; 22365152; 22365152[PMID]_23708187[PMID]; 25239001; 26677014[PMID]; 27210545; 27875746; 28238546; 28923014; 29263050; 30968951; 31402610; 31680123; 32651551
NCBI_gene_ID : 6334
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001330260
Tx_version : 2
Tx_start : 51591232
Tx_end : 51812864
Exon_count : 27
Overlapped_tx_length : 221632
Overlapped_CDS_length : 5943
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51591232
Intersect_end : 51812864
600702; OMIM_ID : 600702;
OMIM_phenotype : ?Myoclonus, familial, 2, 618364 (3) AD;
Cognitive impairment with or without cerebellar ataxia, 614306 (3) AD;
Developmental and epileptic encephalopathy 13, 614558 (3) AD;
Seizures, benign familial infantile, 5, 617080 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.3734Exomiser_gene_pheno_score : 0.3734
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye electrophysiology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.26
.RE_gene : .
12:51591233-51812864; 12:51662799-51688869; 1[...]P_loss_coord : 12:51591233-51812864; 12:51662799-51688869; 12:51684155-51701227; 12:51782159-51786734
P_loss_source : dbVar:nssv15144245; dbVar:nssv15771022; dbVar:nssv17976697; morbid:SCN8A
P_loss_phen : ?Myoclonus, familial, 2, 618364 (3) AD; Cognitive impairment with or without cerebellar ataxia, 614306 (3) AD; Developmental and epileptic encephalopathy 13, 614558 (3) AD; Seizures, benign familial infantile, 5, 617080 (3) AD
P_loss_hpo : .
90P_snvindel_nb : 90
P_snvindel_phen : COGNITIVE_IMPAIRMENT_WITHOUT_CEREBELLAR_ATAXIA; Cognitive_impairment_with_or_without_cerebellar_ataxia; Developmental_and_epileptic_encephalopathy,_13; Early_infantile_epileptic_encephalopathy_with_suppression_bursts; Epilepsy; Epileptic_encephalopathy; Global_developmental_delay; Inborn_genetic_diseases; Neurodevelopmental_disorder; SCN8A-related_disorder; See_cases; Seizure; Seizures,_benign_familial_infantile,_5; developmental_delay_with_seizures
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GNSGene_name : GNS;
LOEUF_bin : 3
GnomAD_pLI : 5.6441e-04
ExAC_pLI : 8.2905e-02
HI : 30
TS : .
DDD_HI_percent : 30.08
ACMG : .
ExAC_cnvZ : -0.337735357311546
ExAC_delZ : 0.409790176114064
ExAC_dupZ : -0.679490615390371
ExAC_synZ : -0.33534265775009
ExAC_misZ : 1.51643546514957
GenCC_disease : mucopolysaccharidosis type 3D
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 12573255[PMID]_17998446[PMID]; 12624138; 17998446; 19650410; 20232353; 251476; 25851924; 3100754; 6450420
NCBI_gene_ID : 2799
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_002076
Tx_version : 4
Tx_start : 64713448
Tx_end : 64759406
Exon_count : 14
Overlapped_tx_length : 45958
Overlapped_CDS_length : 1659
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64713448
Intersect_end : 64759406
607664; OMIM_ID : 607664;
OMIM_phenotype : Mucopolysaccharidosis type IIID, 252940 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3998Exomiser_gene_pheno_score : 0.3998
Human_pheno_evidence : Craniosynostosis; Frontal bossing; Mucopolysaccharidosis type IIID
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.12
.RE_gene : .
12:64713449-64759406; 12:64739372-64747928P_loss_coord : 12:64713449-64759406; 12:64739372-64747928
P_loss_source : dbVar:nssv16212003; morbid:GNS
P_loss_phen : Mucopolysaccharidosis type IIID, 252940 (3) AR
P_loss_hpo : .
44P_snvindel_nb : 44
P_snvindel_phen : Mucopolysaccharidosis,_MPS-III-D
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT75Gene_name : KRT75;
LOEUF_bin : 5
GnomAD_pLI : 4.0410e-08
ExAC_pLI : 5.1356e-07
HI : .
TS : .
DDD_HI_percent : 36.65
ACMG : .
ExAC_cnvZ : 0.62143924892657
ExAC_delZ : 0.700086878822442
ExAC_dupZ : 0.466279896623769
ExAC_synZ : -0.883312851160125
ExAC_misZ : -0.73076601417576
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9119
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_004693
Tx_version : 3
Tx_start : 52424069
Tx_end : 52434371
Exon_count : 9
Overlapped_tx_length : 10302
Overlapped_CDS_length : 1656
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52424069
Intersect_end : 52434371
609025; OMIM_ID : 609025;
OMIM_phenotype : (Pseudofolliculitis barbae, susceptibility to), 612318 (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.6757Exomiser_gene_pheno_score : 0.6757
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal nail morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NR1H4Gene_name : NR1H4;
LOEUF_bin : 3
GnomAD_pLI : 9.3892e-04
ExAC_pLI : 1.6170e-01
HI : .
TS : .
DDD_HI_percent : 11.88
ACMG : .
ExAC_cnvZ : 0.651126836084068
ExAC_delZ : 0.81505742903782
ExAC_dupZ : 0.338930785903885
ExAC_synZ : -0.139625923920315
ExAC_misZ : 1.44223310927567
GenCC_disease : cholestasis, progressive familial intrahepatic, 5
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 11030617; 17681172; 21633855; 26888176; 30366773
NCBI_gene_ID : 9971
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001206993
Tx_version : 2
Tx_start : 100503359
Tx_end : 100564414
Exon_count : 9
Overlapped_tx_length : 61055
Overlapped_CDS_length : 1461
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100503359
Intersect_end : 100564414
603826; OMIM_ID : 603826;
OMIM_phenotype : Cholestasis, progressive familial intrahepatic, 5, 617049 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4801Exomiser_gene_pheno_score : 0.4801
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; decreased bone mineral density; decreased interscapular fat pad weight
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:100503360-100564414P_loss_coord : 12:100503360-100564414
P_loss_source : morbid:NR1H4
P_loss_phen : Cholestasis, progressive familial intrahepatic, 5, 617049 (3) AR
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : Cholestasis,_progressive_familial_intrahepatic,_5; Progressive_familial_intrahepatic_cholestasis_type_1
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GDF11Gene_name : GDF11;
LOEUF_bin : 1
GnomAD_pLI : 9.7645e-01
ExAC_pLI : 9.6384e-01
HI : .
TS : .
DDD_HI_percent : 14.75
ACMG : .
ExAC_cnvZ : 0.925564579575346
ExAC_delZ : 0.502157938215522
ExAC_dupZ : 0.809050626506212
ExAC_synZ : 2.77975496416106
ExAC_misZ : 4.41955529675949
GenCC_disease : vertebral hypersegmentation and orofacial anomalies
GenCC_moi : AD
GenCC_classification : Limited; Strong
GenCC_pmid : 26489027; 31215115; 34113007
NCBI_gene_ID : 10220
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_005811
Tx_version : 5
Tx_start : 55743121
Tx_end : 55757264
Exon_count : 3
Overlapped_tx_length : 14143
Overlapped_CDS_length : 1224
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55743121
Intersect_end : 55757264
603936; OMIM_ID : 603936;
OMIM_phenotype : ?Vertebral hypersegmentation and orofacial anomalies, 619122 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.6180Exomiser_gene_pheno_score : 0.6180
Human_pheno_evidence : ?Vertebral hypersegmentation and orofacial anomalies; Craniosynostosis; Prominent occiput
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ADAMTS20Gene_name : ADAMTS20;
LOEUF_bin : 4
GnomAD_pLI : 4.4534e-38
ExAC_pLI : 4.8537e-26
HI : .
TS : .
DDD_HI_percent : 68.04
ACMG : .
ExAC_cnvZ : 0.978831228045902
ExAC_delZ : 0.822728281044849
ExAC_dupZ : 0.874517657295695
ExAC_synZ : 0.329789237123272
ExAC_misZ : -2.79401797427147
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80070
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_011538754
Tx_version : 3
Tx_start : 43352762
Tx_end : 43552203
Exon_count : 39
Overlapped_tx_length : 199441
Overlapped_CDS_length : 5736
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 43352762
Intersect_end : 43552203
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.8271Exomiser_gene_pheno_score : 0.8271
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; syndactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WNT10BGene_name : WNT10B;
LOEUF_bin : 5
GnomAD_pLI : 3.6160e-04
ExAC_pLI : 3.9981e-03
HI : .
TS : .
DDD_HI_percent : 7.24
ACMG : .
ExAC_cnvZ : 0.688146034961212
ExAC_delZ : 0.0263602873900101
ExAC_dupZ : 0.937776546115973
ExAC_synZ : 1.26808663694089
ExAC_misZ : 1.92376083958065
GenCC_disease : split hand-foot malformation; split hand-foot malformation 6; tooth agenesis; tooth agenesis, selective, 8
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 12072797; 18515319; 18515319[PMID]_20635353[PMID]; 20499361; 20635353; 24211389; 24574680; 27321946; 27321946[PMID]; 29364501; 29384555; 31050392
NCBI_gene_ID : 7480
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_003394
Tx_version : 4
Tx_start : 48965339
Tx_end : 48971735
Exon_count : 5
Overlapped_tx_length : 6396
Overlapped_CDS_length : 1170
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48965339
Intersect_end : 48971735
601906; OMIM_ID : 601906;
OMIM_phenotype : Split-hand/foot malformation 6, 225300 (3) AR;
Tooth agenesis, selective, 8, 617073 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4946Exomiser_gene_pheno_score : 0.4946
Human_pheno_evidence : Brachydactyly; Isolated split hand-split foot malformation; Oligodactyly
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:48965340-48971735P_loss_coord : 12:48965340-48971735
P_loss_source : morbid:WNT10B
P_loss_phen : Split-hand; foot malformation 6, 225300 (3) AR; Tooth agenesis, selective, 8, 617073 (3) AD
P_loss_hpo : .
6P_snvindel_nb : 6
P_snvindel_phen : Split_hand-foot_malformation_6
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRP1Gene_name : LRP1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 32.46
ACMG : .
ExAC_cnvZ : 1.70332713853673
ExAC_delZ : 2.00971959053756
ExAC_dupZ : 1.40709973216266
ExAC_synZ : 3.18591136489726
ExAC_misZ : 10.3449308517202
GenCC_disease : atrophoderma vermiculata; keratosis follicularis spinulosa decalvans; keratosis pilaris atrophicans; schizophrenia
GenCC_moi : AD; AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 21743468; 26039597; 26142438; 26142438[PMID]; 26666178; 31094488
NCBI_gene_ID : 10438
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_002332
Tx_version : 3
Tx_start : 57128482
Tx_end : 57213361
Exon_count : 89
Overlapped_tx_length : 84879
Overlapped_CDS_length : 13635
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57128482
Intersect_end : 57213361
107770; OMIM_ID : 107770;
OMIM_phenotype : ?Keratosis pilaris atrophicans, 604093 (3) AR;
Developmental dysplasia of the hip 3, 620690 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.4408Exomiser_gene_pheno_score : 0.4408
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb bud morphology; microphthalmia
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:57128483-57213361P_loss_coord : 12:57128483-57213361
P_loss_source : morbid:LRP1
P_loss_phen : ?Keratosis pilaris atrophicans, 604093 (3) AR; Developmental dysplasia of the hip 3, 620690 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CNTN1Gene_name : CNTN1;
LOEUF_bin : 1
GnomAD_pLI : 1.5131e-01
ExAC_pLI : 9.9999e-01
HI : 30
TS : .
DDD_HI_percent : 22.29
ACMG : .
ExAC_cnvZ : 1.80216869612402
ExAC_delZ : 1.72817430851305
ExAC_dupZ : 1.42510177725249
ExAC_synZ : 0.0868415678993154
ExAC_misZ : 1.45882853922431
GenCC_disease : Compton-North congenital myopathy; schizophrenia
GenCC_moi : AR
GenCC_classification : Moderate; No Known Disease Relationship; Strong; Supportive
GenCC_pmid : 19026398; 19026398[PMID]; 22242131
NCBI_gene_ID : 1272
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001843
Tx_version : 4
Tx_start : 40692438
Tx_end : 41072415
Exon_count : 24
Overlapped_tx_length : 379977
Overlapped_CDS_length : 3057
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40692438
Intersect_end : 41072415
600016; OMIM_ID : 600016;
OMIM_phenotype : ?Congenital myopathy 12, 612540 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.6072Exomiser_gene_pheno_score : 0.6072
Human_pheno_evidence : ?Congenital myopathy 12; Brachydactyly; Craniosynostosis; Dolichocephaly; Overlapping fingers
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
11P_snvindel_nb : 11
P_snvindel_phen : Compton-North_congenital_myopathy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NOS1Gene_name : NOS1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9869e-01
HI : .
TS : .
DDD_HI_percent : 13.75
ACMG : .
ExAC_cnvZ : 0.552643201742198
ExAC_delZ : 1.34958119833707
ExAC_dupZ : 0.0800944128723759
ExAC_synZ : -0.22463020123879
ExAC_misZ : 4.13531474037673
GenCC_disease : idiopathic achalasia
GenCC_moi : AR
GenCC_classification : Supportive
GenCC_pmid : 25479138[PMID]
NCBI_gene_ID : 340719
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : NM_001204218
Tx_version : 2
Tx_start : 117208141
Tx_end : 117361626
Exon_count : 30
Overlapped_tx_length : 153485
Overlapped_CDS_length : 4407
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117208141
Intersect_end : 117361626
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4304Exomiser_gene_pheno_score : 0.4304
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:117208142-117361626P_loss_coord : 12:117208142-117361626
P_loss_source : morbid:NOS1
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYBPC1Gene_name : MYBPC1;
LOEUF_bin : 2
GnomAD_pLI : 4.8350e-05
ExAC_pLI : 6.5793e-01
HI : .
TS : .
DDD_HI_percent : 22.03
ACMG : .
ExAC_cnvZ : 0.881669374163963
ExAC_delZ : 0.952587966924472
ExAC_dupZ : 0.669052230751086
ExAC_synZ : -0.344712763133584
ExAC_misZ : 1.44992988152507
GenCC_disease : arthrogryposis, distal, type 1B; digitotalar dysmorphism; lethal congenital contracture syndrome 3; lethal congenital contracture syndrome 4; myopathy, congenital, with tremor
GenCC_moi : AD; AR
GenCC_classification : Limited; Moderate; Strong; Supportive
GenCC_pmid : 20045868; 20045868[PMID]; 22610851; 22610851[PMID]; 23657818; 23873045; 25679999; 26661508; 31025394; 31264822
NCBI_gene_ID : 4604
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_006719405
Tx_version : 5
Tx_start : 101594970
Tx_end : 101686028
Exon_count : 31
Overlapped_tx_length : 91058
Overlapped_CDS_length : 3588
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101594970
Intersect_end : 101686028
160794; OMIM_ID : 160794;
OMIM_phenotype : Arthrogryposis, distal, type 1B, 614335 (3) AD;
Congenital myopathy 16, 618524 (3) AD;
Lethal congenital contracture syndrome 4, 614915 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4474Exomiser_gene_pheno_score : 0.4474
Human_pheno_evidence : Adducted thumb; Brachydactyly; Distal arthrogryposis type 1
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.07
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Inborn_genetic_diseases; MYBPC1-related_condition; Myopathy,_congenital,_with_tremor
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KITLGGene_name : KITLG;
LOEUF_bin : 1
GnomAD_pLI : 8.5024e-01
ExAC_pLI : 5.0853e-01
HI : .
TS : .
DDD_HI_percent : 0.47
ACMG : .
ExAC_cnvZ : 0.866564352882328
ExAC_delZ : 0.738749527801199
ExAC_dupZ : 0.628832965893552
ExAC_synZ : -0.159604678204073
ExAC_misZ : 0.0923656117387558
GenCC_disease : Waardenburg syndrome type 2; Waardenburg syndrome, IIa 2F; autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 69; familial progressive hyper- and hypopigmentation; familial progressive hyperpigmentation; nonsyndromic genetic hearing loss
GenCC_moi : AD
GenCC_classification : Limited; Moderate; Strong; Supportive
GenCC_pmid : 1280558; 19375057[PMID]; 21368769[PMID]; 26522471; 26522471[PMID]; 28504826
NCBI_gene_ID : 4254
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : 5'UTR-3'UTR
Tx : NM_000899
Tx_version : 5
Tx_start : 88492792
Tx_end : 88580471
Exon_count : 10
Overlapped_tx_length : 87679
Overlapped_CDS_length : 822
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88492792
Intersect_end : 88580471
184745; OMIM_ID : 184745;
OMIM_phenotype : Deafness, AD 69, unilateral or asymmetric, 616697 (3) AD;
Hyperpigmentation with or without hypopigmentation, 145250 (3) AD;
Waardenburg syndrome, type 2F, 619947 (3) AR;
[Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3);
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4309Exomiser_gene_pheno_score : 0.4309
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.05
.RE_gene : .
12:88492793-88580471P_loss_coord : 12:88492793-88580471
P_loss_source : morbid:KITLG
P_loss_phen : Deafness, AD 69, unilateral or asymmetric, 616697 (3) AD; Hyperpigmentation with or without hypopigmentation, 145250 (3) AD; Waardenburg syndrome, type 2F, 619947 (3) AR; Skin; hair; eye pigmentation 7, blond; brown hair, 611664 (3)
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC65Gene_name : CCDC65;
LOEUF_bin : 6
GnomAD_pLI : 5.7685e-11
ExAC_pLI : 9.5969e-07
HI : .
TS : .
DDD_HI_percent : 52.33
ACMG : .
ExAC_cnvZ : 0.0237570092968499
ExAC_delZ : 0.472689097004459
ExAC_dupZ : -0.217519824314882
ExAC_synZ : 0.640309445729781
ExAC_misZ : -0.701739603288276
GenCC_disease : primary ciliary dyskinesia; primary ciliary dyskinesia 27
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 23991085; 24094744; 24094744[PMID]
NCBI_gene_ID : 85478
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_033124
Tx_version : 5
Tx_start : 48904132
Tx_end : 48921576
Exon_count : 8
Overlapped_tx_length : 17444
Overlapped_CDS_length : 1455
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48904132
Intersect_end : 48921576
611088; OMIM_ID : 611088;
OMIM_phenotype : Ciliary dyskinesia, primary, 27, 615504 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4802Exomiser_gene_pheno_score : 0.4802
Human_pheno_evidence : Brachydactyly; Clubbing; Primary ciliary dyskinesia
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:48904133-48921576P_loss_coord : 12:48904133-48921576
P_loss_source : morbid:CCDC65
P_loss_phen : Ciliary dyskinesia, primary, 27, 615504 (3) AR
P_loss_hpo : .
9P_snvindel_nb : 9
P_snvindel_phen : Anomalous_origin_of_coronary_artery_from_the_pulmonary_artery; Clinodactyly_of_the_5th_finger; Cough; Primary_ciliary_dyskinesia; Primary_ciliary_dyskinesia_27
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ADCY6Gene_name : ADCY6;
LOEUF_bin : 2
GnomAD_pLI : 5.8268e-03
ExAC_pLI : 5.9668e-01
HI : .
TS : .
DDD_HI_percent : 18.58
ACMG : .
ExAC_cnvZ : 1.08305594250082
ExAC_delZ : 0.919367584451964
ExAC_dupZ : 0.855180760846721
ExAC_synZ : 1.01341477105992
ExAC_misZ : 3.55823502099606
GenCC_disease : hypomyelination neuropathy-arthrogryposis syndrome; lethal congenital contracture syndrome 8
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 24319099; 24319099[PMID]; 26257172
NCBI_gene_ID : 112
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001412819
Tx_version : 1
Tx_start : 48766193
Tx_end : 48789974
Exon_count : 22
Overlapped_tx_length : 23781
Overlapped_CDS_length : 3507
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48766193
Intersect_end : 48789974
600294; OMIM_ID : 600294;
OMIM_phenotype : Lethal congenital contracture syndrome 8, 616287 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4295Exomiser_gene_pheno_score : 0.4295
Human_pheno_evidence : Brachydactyly; Hammertoe; Lethal congenital contracture syndrome 8
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:48766194-48789974P_loss_coord : 12:48766194-48789974
P_loss_source : morbid:ADCY6
P_loss_phen : Lethal congenital contracture syndrome 8, 616287 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SHMT2Gene_name : SHMT2;
LOEUF_bin : 4
GnomAD_pLI : 7.8195e-08
ExAC_pLI : 7.4875e-03
HI : .
TS : .
DDD_HI_percent : 22.5
ACMG : .
ExAC_cnvZ : 0.966728501530211
ExAC_delZ : 0.2832702330587
ExAC_dupZ : 1.11781720299715
ExAC_synZ : -0.124435419043602
ExAC_misZ : 2.09886477524955
GenCC_disease : complex neurodevelopmental disorder; neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 33015733
NCBI_gene_ID : 6472
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_005412
Tx_version : 6
Tx_start : 57229710
Tx_end : 57234935
Exon_count : 12
Overlapped_tx_length : 5225
Overlapped_CDS_length : 1515
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57229710
Intersect_end : 57234935
138450; OMIM_ID : 138450;
OMIM_phenotype : Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4526Exomiser_gene_pheno_score : 0.4526
Human_pheno_evidence : Adducted thumb; Brachydactyly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Mouse_pheno_evidence : Craniosynostosis; increased cornea thickness
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:57231475-57234935P_loss_coord : 12:57231475-57234935
P_loss_source : morbid:SHMT2
P_loss_phen : Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NABP2Gene_name : NABP2;
LOEUF_bin : 1
GnomAD_pLI : 9.7257e-01
ExAC_pLI : 9.5680e-01
HI : .
TS : .
DDD_HI_percent : 41.31
ACMG : .
ExAC_cnvZ : 0.987627190221618
ExAC_delZ : 0.855733256839947
ExAC_dupZ : 0.743974561534051
ExAC_synZ : 0.204669979417114
ExAC_misZ : 1.71516220956261
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79035
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_047429531
Tx_version : 1
Tx_start : 56224452
Tx_end : 56229854
Exon_count : 6
Overlapped_tx_length : 5402
Overlapped_CDS_length : 711
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56224452
Intersect_end : 56229854
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.7530Exomiser_gene_pheno_score : 0.7530
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal cranium morphology; hindlimb oligodactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NCKAP1LGene_name : NCKAP1L;
LOEUF_bin : 1
GnomAD_pLI : 8.5489e-01
ExAC_pLI : 9.9044e-01
HI : .
TS : .
DDD_HI_percent : 22.76
ACMG : .
ExAC_cnvZ : 0.219338372529298
ExAC_delZ : 0.80545357244847
ExAC_dupZ : -0.156447492318536
ExAC_synZ : -0.796811965652811
ExAC_misZ : 2.18362578488053
GenCC_disease : immunodeficiency 72 with autoinflammation
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 19015308; 32647003; 32766723
NCBI_gene_ID : 3071
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13-q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_005337
Tx_version : 5
Tx_start : 54497751
Tx_end : 54548243
Exon_count : 31
Overlapped_tx_length : 50492
Overlapped_CDS_length : 3384
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54497751
Intersect_end : 54548243
141180; OMIM_ID : 141180;
OMIM_phenotype : Immunodeficiency 72 with autoinflammation, 618982 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4133Exomiser_gene_pheno_score : 0.4133
Human_pheno_evidence : Brachydactyly; Clubbing of fingers; Immunodeficiency 72 with autoinflammation
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:54498778-54548243P_loss_coord : 12:54498778-54548243
P_loss_source : morbid:NCKAP1L
P_loss_phen : Immunodeficiency 72 with autoinflammation, 618982 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT2Gene_name : KRT2;
LOEUF_bin : 3
GnomAD_pLI : 1.2882e-03
ExAC_pLI : 6.7350e-02
HI : .
TS : .
DDD_HI_percent : 73.78
ACMG : .
ExAC_cnvZ : 1.40584252768792
ExAC_delZ : 1.05789828885107
ExAC_dupZ : 1.3362884188543
ExAC_synZ : -1.9859294658642
ExAC_misZ : -0.744426996446
GenCC_disease : superficial epidermolytic ichthyosis
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10084318; 10620137; 15949009[PMID]; 22612346; 26581228; 33081034; 34779035; 7524919; 8077693; 9204966; 9804344
NCBI_gene_ID : 3849
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_000423
Tx_version : 3
Tx_start : 52644557
Tx_end : 52652211
Exon_count : 9
Overlapped_tx_length : 7654
Overlapped_CDS_length : 1920
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52644557
Intersect_end : 52652211
600194; OMIM_ID : 600194;
OMIM_phenotype : Ichthyosis bullosa of Siemens, 146800 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4304Exomiser_gene_pheno_score : 0.4304
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; increased foot pad pigmentation
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:52644558-52652211P_loss_coord : 12:52644558-52652211
P_loss_source : morbid:KRT2
P_loss_phen : Ichthyosis bullosa of Siemens, 146800 (3) AD
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Exfoliative_ichthyosis; Ichthyosis_bullosa_of_Siemens
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT6AGene_name : KRT6A;
LOEUF_bin : 4
GnomAD_pLI : 7.0326e-05
ExAC_pLI : 9.4876e-01
HI : .
TS : .
DDD_HI_percent : 53.15
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.596234408375896
ExAC_misZ : 2.14327302311541
GenCC_disease : pachyonychia congenita; pachyonychia congenita 3
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 10953016; 16250206; 17914454; 20301457[PMID]; 21326300; 24611874
NCBI_gene_ID : 3853
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_005554
Tx_version : 4
Tx_start : 52487175
Tx_end : 52493257
Exon_count : 9
Overlapped_tx_length : 6082
Overlapped_CDS_length : 1695
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52487175
Intersect_end : 52493257
148041; OMIM_ID : 148041;
OMIM_phenotype : Pachyonychia congenita 3, 615726 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4273Exomiser_gene_pheno_score : 0.4273
Human_pheno_evidence : Brachydactyly; Nail dystrophy; Pachyonychia congenita
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:52487176-52493257P_loss_coord : 12:52487176-52493257
P_loss_source : morbid:KRT6A
P_loss_phen : Pachyonychia congenita 3, 615726 (3) AD
P_loss_hpo : .
14P_snvindel_nb : 14
P_snvindel_phen : Pachyonychia_congenita_3
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ERBB3Gene_name : ERBB3;
LOEUF_bin : 3
GnomAD_pLI : 1.7003e-15
ExAC_pLI : 4.3583e-06
HI : .
TS : .
DDD_HI_percent : 1.7
ACMG : .
ExAC_cnvZ : -1.51459794760812
ExAC_delZ : 0.645283082867325
ExAC_dupZ : -2.32822120691811
ExAC_synZ : 0.0275821946542895
ExAC_misZ : 1.82395272123992
GenCC_disease : Hirschsprung disease; lethal congenital contracture syndrome 2
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 12548738; 17701904; 17701904[PMID]; 28454995; 33497358[PMID]; 9338783
NCBI_gene_ID : 2065
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001982
Tx_version : 4
Tx_start : 56080164
Tx_end : 56103505
Exon_count : 28
Overlapped_tx_length : 23341
Overlapped_CDS_length : 4029
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56080164
Intersect_end : 56103505
190151; OMIM_ID : 190151;
OMIM_phenotype : ?Lethal congenital contractural syndrome 2, 607598 (3) AR;
Visceral neuropathy, familial, 1, AR, 243180 (3) AR;
(?Erythroleukemia, familial, susceptibility to), 133180 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.4212Exomiser_gene_pheno_score : 0.4212
Human_pheno_evidence : Adducted thumb; Brachydactyly; Hirschsprung disease
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:56083314-56103505P_loss_coord : 12:56083314-56103505
P_loss_source : morbid:ERBB3
P_loss_phen : ?Lethal congenital contractural syndrome 2, 607598 (3) AR; Visceral neuropathy, familial, 1, AR, 243180 (3) AR; ?Erythroleukemia, familial, susceptibility to, 133180 (3) AD
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Visceral_neuropathy,_familial,_1,_autosomal_recessive
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT85Gene_name : KRT85;
LOEUF_bin : 4
GnomAD_pLI : 3.1183e-06
ExAC_pLI : 1.1091e-03
HI : .
TS : .
DDD_HI_percent : 57.19
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.143997894450014
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.679859687413442
ExAC_misZ : 1.02912039021793
GenCC_disease : ectodermal dysplasia 4, hair/nail type; pure hair and nail ectodermal dysplasia
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 16525032; 16525032[PMID]; 19865094; 31273852; 52754711
NCBI_gene_ID : 3891
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_002283
Tx_version : 4
Tx_start : 52360005
Tx_end : 52367481
Exon_count : 9
Overlapped_tx_length : 7476
Overlapped_CDS_length : 1524
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52360005
Intersect_end : 52367481
602767; OMIM_ID : 602767;
OMIM_phenotype : Ectodermal dysplasia 4, hair/nail type, 602032 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4222Exomiser_gene_pheno_score : 0.4222
Human_pheno_evidence : Brachydactyly; Ectodermal dysplasia 4, hair/nail type; Nail dystrophy
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:52360006-52367481P_loss_coord : 12:52360006-52367481
P_loss_source : morbid:KRT85
P_loss_phen : Ectodermal dysplasia 4, hair; nail type, 602032 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDX11Gene_name : DDX11;
LOEUF_bin : 5
GnomAD_pLI : 2.3461e-21
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 79.21
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Warsaw breakage syndrome
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 17611414; 20137776; 23033317; 23033317[PMID]_20137776[PMID]; 25701697; 26089203; 32855419
NCBI_gene_ID : 1663
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : XM_017018919
Tx_version : 3
Tx_start : 31074264
Tx_end : 31104799
Exon_count : 28
Overlapped_tx_length : 30535
Overlapped_CDS_length : 3276
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31074264
Intersect_end : 31104799
601150; OMIM_ID : 601150;
OMIM_phenotype : Warsaw breakage syndrome, 613398 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4237Exomiser_gene_pheno_score : 0.4237
Human_pheno_evidence : 2-3 toe syndactyly; Brachydactyly; Warsaw breakage syndrome
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:31086226-31104799P_loss_coord : 12:31086226-31104799
P_loss_source : morbid:DDX11
P_loss_phen : Warsaw breakage syndrome, 613398 (3) AR
P_loss_hpo : .
10P_snvindel_nb : 10
P_snvindel_phen : Inborn_genetic_diseases; Warsaw_breakage_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC17A8Gene_name : SLC17A8;
LOEUF_bin : 3
GnomAD_pLI : 1.3196e-03
ExAC_pLI : 4.4926e-02
HI : 1
TS : 0
DDD_HI_percent : 31.37
ACMG : .
ExAC_cnvZ : 0.732311964808016
ExAC_delZ : 1.1361287572183
ExAC_dupZ : 0.333261411543235
ExAC_synZ : 0.587181548298027
ExAC_misZ : 0.150176473168591
GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 25; nonsyndromic genetic hearing loss
GenCC_moi : AD
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 11115382; 18215623; 18674745; 20301607[PMID]; 23967202; 24082139; 26797701; 26969326; 27068579; 27610647; 28647561; 33724713; 34145196; 34440452; 34783032
NCBI_gene_ID : 246213
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_139319
Tx_version : 3
Tx_start : 100357073
Tx_end : 100422055
Exon_count : 12
Overlapped_tx_length : 64982
Overlapped_CDS_length : 1770
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100357073
Intersect_end : 100422055
607557; OMIM_ID : 607557;
OMIM_phenotype : Deafness, AD 25, 605583 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4000Exomiser_gene_pheno_score : 0.4000
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.06
.RE_gene : .
12:100357074-100422055P_loss_coord : 12:100357074-100422055
P_loss_source : morbid:SLC17A8
P_loss_phen : Deafness, AD 25, 605583 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SDR9C7Gene_name : SDR9C7;
LOEUF_bin : 4
GnomAD_pLI : 1.2329e-02
ExAC_pLI : 1.3529e-02
HI : .
TS : .
DDD_HI_percent : 62.03
ACMG : .
ExAC_cnvZ : 1.00815826294726
ExAC_delZ : 0.556904438982879
ExAC_dupZ : 0.875853954312422
ExAC_synZ : -0.238918632805079
ExAC_misZ : -0.231706819017131
GenCC_disease : ichthyosis, congenital, autosomal recessive 13; lamellar ichthyosis
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 28112794; 28173123; 28369735; 28906551; 28906551[PMID]_28369735[PMID]; 31671075
NCBI_gene_ID : 121214
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_148897
Tx_version : 3
Tx_start : 56923132
Tx_end : 56934408
Exon_count : 4
Overlapped_tx_length : 11276
Overlapped_CDS_length : 942
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56923132
Intersect_end : 56934408
609769; OMIM_ID : 609769;
OMIM_phenotype : Ichthyosis, congenital, AR 13, 617574 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3981Exomiser_gene_pheno_score : 0.3981
Human_pheno_evidence : Abnormality of the nail; Brachydactyly; Lamellar ichthyosis
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:56923133-56934408P_loss_coord : 12:56923133-56934408
P_loss_source : morbid:SDR9C7
P_loss_phen : Ichthyosis, congenital, AR 13, 617574 (3) AR
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Congenital_ichthyosis_of_skin; Ichthyosis,_congenital,_autosomal_recessive_13; SDR9C7-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC39A5Gene_name : SLC39A5;
LOEUF_bin : 6
GnomAD_pLI : 7.3793e-11
ExAC_pLI : 1.2074e-07
HI : .
TS : .
DDD_HI_percent : 58.2
ACMG : .
ExAC_cnvZ : -1.27963487546893
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.664672778955163
ExAC_synZ : -0.194807621787331
ExAC_misZ : -0.47329589861205
GenCC_disease : myopia 24, autosomal dominant
GenCC_moi : AD
GenCC_classification : Limited; Strong
GenCC_pmid : 24303081; 24891338; 25525168; 28442722; 31560770; 32215939
NCBI_gene_ID : 283375
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_173596
Tx_version : 3
Tx_start : 56230050
Tx_end : 56237846
Exon_count : 13
Overlapped_tx_length : 7796
Overlapped_CDS_length : 1623
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56230050
Intersect_end : 56237846
608730; OMIM_ID : 608730;
OMIM_phenotype : Myopia 24, AD, 615946 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:56230717-56237846P_loss_coord : 12:56230717-56237846
P_loss_source : morbid:SLC39A5
P_loss_phen : Myopia 24, AD, 615946 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OAS1Gene_name : OAS1;
LOEUF_bin : 5
GnomAD_pLI : 3.4489e-05
ExAC_pLI : 1.2392e-03
HI : .
TS : .
DDD_HI_percent : 88.34
ACMG : .
ExAC_cnvZ : -2.30444519794355
ExAC_delZ : 0.200841549999137
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.538673882879235
ExAC_misZ : -0.938592752826804
GenCC_disease : pulmonary alveolar proteinosis with hypogammaglobulinemia
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : 29455859; 34145065; 34647697
NCBI_gene_ID : 4938
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001032409
Tx_version : 3
Tx_start : 112906961
Tx_end : 112919903
Exon_count : 6
Overlapped_tx_length : 12942
Overlapped_CDS_length : 1245
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112906961
Intersect_end : 112919903
164350; OMIM_ID : 164350;
OMIM_phenotype : Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, 618042 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4092Exomiser_gene_pheno_score : 0.4092
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:112905794-112947514
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AQP5Gene_name : AQP5;
LOEUF_bin : 5
GnomAD_pLI : 5.3249e-02
ExAC_pLI : 4.3855e-03
HI : .
TS : .
DDD_HI_percent : 55.37
ACMG : .
ExAC_cnvZ : 0.932623589410049
ExAC_delZ : 0.80472664415933
ExAC_dupZ : 0.744340660337483
ExAC_synZ : 1.00776907383535
ExAC_misZ : 0.946447113998736
GenCC_disease : nonepidermolytic palmoplantar keratoderma; palmoplantar keratoderma, Bothnian type
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 23830519; 23830519[PMID]; 2386789; 23867895; 275998; 277194
NCBI_gene_ID : 362
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001651
Tx_version : 4
Tx_start : 49961871
Tx_end : 49965682
Exon_count : 4
Overlapped_tx_length : 3811
Overlapped_CDS_length : 798
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49961871
Intersect_end : 49965682
600442; OMIM_ID : 600442;
OMIM_phenotype : Palmoplantar keratoderma, Bothnian type, 600231 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4080Exomiser_gene_pheno_score : 0.4080
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; dry eyes
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:49961872-49965682P_loss_coord : 12:49961872-49965682
P_loss_source : morbid:AQP5
P_loss_phen : Palmoplantar keratoderma, Bothnian type, 600231 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Palmoplantar_keratoderma,_Bothnian_type
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT6BGene_name : KRT6B;
LOEUF_bin : 7
GnomAD_pLI : 5.5245e-10
ExAC_pLI : 4.7927e-03
HI : .
TS : .
DDD_HI_percent : 81.16
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 2.63708328230734
ExAC_misZ : 2.27158644105576
GenCC_disease : pachyonychia congenita; pachyonychia congenita 4
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 16250206; 20301457[PMID]; 24611874; 9618173
NCBI_gene_ID : 3854
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_005555
Tx_version : 4
Tx_start : 52446650
Tx_end : 52452146
Exon_count : 9
Overlapped_tx_length : 5496
Overlapped_CDS_length : 1695
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52446650
Intersect_end : 52452146
148042; OMIM_ID : 148042;
OMIM_phenotype : Pachyonychia congenita 4, 615728 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4273Exomiser_gene_pheno_score : 0.4273
Human_pheno_evidence : Brachydactyly; Nail dystrophy; Pachyonychia congenita
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:52446651-52452146P_loss_coord : 12:52446651-52452146
P_loss_source : morbid:KRT6B
P_loss_phen : Pachyonychia congenita 4, 615728 (3) AD
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Pachyonychia_congenita_4
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT86Gene_name : KRT86;
LOEUF_bin : 6
GnomAD_pLI : 3.6139e-07
ExAC_pLI : 3.6397e-05
HI : .
TS : .
DDD_HI_percent : 31.06
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.67153770329782
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 2.22496753502903
ExAC_misZ : 1.5711898900915
GenCC_disease : monilethrix
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 10504448; 15050877; 25557232; 25809918; 28299823; 9241275; 9241275[PMID]_22670615[PMID]; 9402962; 94402962; 9665406
NCBI_gene_ID : 3892
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_005268866
Tx_version : 5
Tx_start : 52274644
Tx_end : 52309163
Exon_count : 11
Overlapped_tx_length : 34519
Overlapped_CDS_length : 1692
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52274644
Intersect_end : 52309163
601928; OMIM_ID : 601928;
OMIM_phenotype : Monilethrix, 158000 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4123Exomiser_gene_pheno_score : 0.4123
Human_pheno_evidence : Brachydactyly; Monilethrix; Nail dysplasia
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:52274645-52309163; 12:52285913-52308624P_loss_coord : 12:52274645-52309163; 12:52285913-52308624
P_loss_source : morbid:KRT81; morbid:KRT86
P_loss_phen : Monilethrix, 158000 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Beaded_hair
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANAPC7Gene_name : ANAPC7;
LOEUF_bin : 1
GnomAD_pLI : 8.4850e-01
ExAC_pLI : 9.9926e-01
HI : .
TS : .
DDD_HI_percent : 19.68
ACMG : .
ExAC_cnvZ : 0.210343113641007
ExAC_delZ : 0.0194122570223471
ExAC_dupZ : 0.245018187129747
ExAC_synZ : 1.32573863637209
ExAC_misZ : 2.72597504973508
GenCC_disease : Ferguson-Bonni neurodevelopmental syndrome
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 34942119
NCBI_gene_ID : 51434
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001385208
Tx_version : 1
Tx_start : 110372899
Tx_end : 110401949
Exon_count : 11
Overlapped_tx_length : 29050
Overlapped_CDS_length : 1740
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110372899
Intersect_end : 110401949
606949; OMIM_ID : 606949;
OMIM_phenotype : Ferguson-Bonni neurodevelopmental syndrome, 619699 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3568Exomiser_gene_pheno_score : 0.3568
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal bone structure
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:110383050-110391101P_loss_coord : 12:110383050-110391101
P_loss_source : dbVar:nssv17955914
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT83Gene_name : KRT83;
LOEUF_bin : 7
GnomAD_pLI : 3.3665e-14
ExAC_pLI : 1.7040e-10
HI : .
TS : .
DDD_HI_percent : 56.25
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.07439383422373
ExAC_misZ : -1.09653210353664
GenCC_disease : erythrokeratodermia variabilis; monilethrix
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 15744029; 15744029[PMID]; 25557232; 27965375[PMID]
NCBI_gene_ID : 3889
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_002282
Tx_version : 3
Tx_start : 52314300
Tx_end : 52321398
Exon_count : 9
Overlapped_tx_length : 7098
Overlapped_CDS_length : 1482
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52314300
Intersect_end : 52321398
602765; OMIM_ID : 602765;
OMIM_phenotype : Erythrokeratodermia variabilis et progressiva 5, 617756 (3) AR;
Monilethrix, 158000 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4123Exomiser_gene_pheno_score : 0.4123
Human_pheno_evidence : Brachydactyly; Monilethrix; Nail dysplasia
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:52314301-52321398P_loss_coord : 12:52314301-52321398
P_loss_source : morbid:KRT83
P_loss_phen : Erythrokeratodermia variabilis et progressiva 5, 617756 (3) AR; Monilethrix, 158000 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DCNGene_name : DCN;
LOEUF_bin : 2
GnomAD_pLI : 3.1231e-01
ExAC_pLI : 4.5757e-01
HI : .
TS : .
DDD_HI_percent : 2.89
ACMG : .
ExAC_cnvZ : 0.641669212656456
ExAC_delZ : 0.790958530128413
ExAC_dupZ : 0.345204132845437
ExAC_synZ : -0.248673048989041
ExAC_misZ : 0.804128317012178
GenCC_disease : congenital stromal corneal dystrophy
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 11805522; 15671264; 15671264[PMID]_20301741[PMID]; 16935612; 19337156; 21893019; 21993463; 22870031; 24413633; 27366696
NCBI_gene_ID : 1634
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_001920
Tx_version : 5
Tx_start : 91140483
Tx_end : 91182817
Exon_count : 8
Overlapped_tx_length : 42334
Overlapped_CDS_length : 1080
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91140483
Intersect_end : 91182817
125255; OMIM_ID : 125255;
OMIM_phenotype : Corneal dystrophy, congenital stromal, 610048 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3569Exomiser_gene_pheno_score : 0.3569
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal periodontal ligament morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:91143277-91178646P_loss_coord : 12:91143277-91178646
P_loss_source : morbid:DCN
P_loss_phen : Corneal dystrophy, congenital stromal, 610048 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC8Gene_name : HOXC8;
LOEUF_bin : 3
GnomAD_pLI : 1.6950e-01
ExAC_pLI : 3.9236e-01
HI : .
TS : .
DDD_HI_percent : 4.72
ACMG : .
ExAC_cnvZ : 0.494400993431236
ExAC_delZ : 0.62898672896133
ExAC_dupZ : 0.318965984162638
ExAC_synZ : 0.162000383282582
ExAC_misZ : 1.38656317055821
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3224
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_022658
Tx_version : 4
Tx_start : 54008984
Tx_end : 54012769
Exon_count : 2
Overlapped_tx_length : 3785
Overlapped_CDS_length : 729
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54008984
Intersect_end : 54012769
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.7059Exomiser_gene_pheno_score : 0.7059
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology; camptodactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:38725; esv2672088B_loss_source : DDD:38725; esv2672088
B_loss_coord : 12:54008062-54019908; 12:54008218-54019716
B_loss_AFmax : 0.0333
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KCTD10Gene_name : KCTD10;
LOEUF_bin : 1
GnomAD_pLI : 8.6253e-01
ExAC_pLI : 1.7267e-01
HI : .
TS : .
DDD_HI_percent : 48.88
ACMG : .
ExAC_cnvZ : 0.968512970377162
ExAC_delZ : 0.500127465567267
ExAC_dupZ : 0.844810145868917
ExAC_synZ : -0.544368847038175
ExAC_misZ : 2.77806181555764
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83892
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001317395
Tx_version : 2
Tx_start : 109448654
Tx_end : 109477300
Exon_count : 7
Overlapped_tx_length : 28646
Overlapped_CDS_length : 945
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109448654
Intersect_end : 109477300
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6860Exomiser_gene_pheno_score : 0.6860
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal joint morphology; abnormal radius morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT4Gene_name : KRT4;
LOEUF_bin : 5
GnomAD_pLI : 5.4962e-10
ExAC_pLI : 5.6604e-04
HI : .
TS : .
DDD_HI_percent : 52.19
ACMG : .
ExAC_cnvZ : 0.663619511120594
ExAC_delZ : -0.195624956843002
ExAC_dupZ : 1.08117041390345
ExAC_synZ : -0.469166697465391
ExAC_misZ : -0.130045292500749
GenCC_disease : hereditary mucosal leukokeratosis; white sponge nevus 1
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 10652003; 10652003[PMID]_12828738[PMID]_23182699[PMID]; 12828738; 18992023; 29738605; 7493030
NCBI_gene_ID : 3851
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_002272
Tx_version : 4
Tx_start : 52806548
Tx_end : 52814116
Exon_count : 9
Overlapped_tx_length : 7568
Overlapped_CDS_length : 1563
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52806548
Intersect_end : 52814116
123940; OMIM_ID : 123940;
OMIM_phenotype : White sponge nevus 1, 193900 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3880Exomiser_gene_pheno_score : 0.3880
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal corneal epithelium morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:52806549-52814116P_loss_coord : 12:52806549-52814116
P_loss_source : morbid:KRT4
P_loss_phen : White sponge nevus 1, 193900 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CDK4Gene_name : CDK4;
LOEUF_bin : 3
GnomAD_pLI : 6.2909e-02
ExAC_pLI : 9.3202e-01
HI : 0
TS : 0
DDD_HI_percent : 1.03
ACMG : .
ExAC_cnvZ : -1.45790218029878
ExAC_delZ : -2.19154112723563
ExAC_dupZ : -1.14938192285703
ExAC_synZ : -0.336883415743505
ExAC_misZ : 2.04431621072352
GenCC_disease : malignant pancreatic neoplasm; melanoma, cutaneous malignant, susceptibility to, 3
GenCC_moi : AD
GenCC_classification : Definitive; Moderate; Strong
GenCC_pmid : 11828258; 12406321; 15241418; 15880589; 15951821; 17047042; 19585149; 23384855; 30558719; 30775140; 33077847; 7652577; 8528263; 9425228
NCBI_gene_ID : 1019
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_000075
Tx_version : 4
Tx_start : 57747726
Tx_end : 57752310
Exon_count : 8
Overlapped_tx_length : 4584
Overlapped_CDS_length : 912
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57747726
Intersect_end : 57752310
123829; OMIM_ID : 123829;
OMIM_phenotype : (Melanoma, cutaneous malignant, 3), 609048 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.4111Exomiser_gene_pheno_score : 0.4111
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal cranium morphology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.13
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Familial_melanoma; Hereditary_cancer-predisposing_syndrome; Lung_adenocarcinoma; Malignant_melanoma_of_skin; Melanoma; Melanoma,_cutaneous_malignant,_susceptibility_to,_3; Multiple_myeloma
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LYZGene_name : LYZ;
LOEUF_bin : 9
GnomAD_pLI : 3.4114e-06
ExAC_pLI : 1.3755e-03
HI : .
TS : .
DDD_HI_percent : 14.96
ACMG : .
ExAC_cnvZ : 0.279517711936921
ExAC_delZ : 0.129015909566353
ExAC_dupZ : 0.246044518660806
ExAC_synZ : -0.526057972733144
ExAC_misZ : 0.486836781733929
GenCC_disease : ALys amyloidosis; familial visceral amyloidosis
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 10350460; 10534505; 11849445[PMID]_12675840[PMID]; 12709420; 16329101; 17269695; 21574221; 8464497; 8566845
NCBI_gene_ID : 4069
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_000239
Tx_version : 3
Tx_start : 69348380
Tx_end : 69354234
Exon_count : 4
Overlapped_tx_length : 5854
Overlapped_CDS_length : 447
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69348380
Intersect_end : 69354234
153450; OMIM_ID : 153450;
OMIM_phenotype : Amyloidosis, renal, 105200 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:69348381-69354234P_loss_coord : 12:69348381-69354234
P_loss_source : morbid:LYZ
P_loss_phen : Amyloidosis, renal, 105200 (3) AD
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Familial_visceral_amyloidosis,_Ostertag_type
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT81Gene_name : KRT81;
LOEUF_bin : 9
GnomAD_pLI : 1.2108e-18
ExAC_pLI : 2.1584e-07
HI : .
TS : .
DDD_HI_percent : 32.88
ACMG : .
ExAC_cnvZ : 0.264969846077252
ExAC_delZ : 0.703814814311008
ExAC_dupZ : 0.0819747015483376
ExAC_synZ : 0.868900072408572
ExAC_misZ : 0.996507792424147
GenCC_disease : monilethrix
GenCC_moi : AD
GenCC_classification : Limited; Supportive
GenCC_pmid : 22628999; 9402962; 9402962[PMID]_9665406[PMID]; 9665406
NCBI_gene_ID : 3887
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_047428838
Tx_version : 1
Tx_start : 52285912
Tx_end : 52308624
Exon_count : 10
Overlapped_tx_length : 22712
Overlapped_CDS_length : 1518
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52285912
Intersect_end : 52308624
602153; OMIM_ID : 602153;
OMIM_phenotype : Monilethrix, 158000 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4123Exomiser_gene_pheno_score : 0.4123
Human_pheno_evidence : Brachydactyly; Monilethrix; Nail dysplasia
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:52285913-52308624P_loss_coord : 12:52285913-52308624
P_loss_source : morbid:KRT81
P_loss_phen : Monilethrix, 158000 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Beaded_hair
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT74Gene_name : KRT74;
LOEUF_bin : 8
GnomAD_pLI : 2.1183e-14
ExAC_pLI : 8.3964e-09
HI : .
TS : .
DDD_HI_percent : 75.31
ACMG : .
ExAC_cnvZ : 0.305603770605056
ExAC_delZ : 0.570982571009202
ExAC_dupZ : 0.118491982070902
ExAC_synZ : -1.13052369591303
ExAC_misZ : -0.763038963732837
GenCC_disease : autosomal dominant wooly hair; hypotrichosis 3; hypotrichosis simplex of the scalp; isolated familial wooly hair disorder; pure hair and nail ectodermal dysplasia
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 20346438; 20346438[PMID]_21188418[PMID]; 21188418; 21188418[PMID]; 24714551[PMID]
NCBI_gene_ID : 121391
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_175053
Tx_version : 4
Tx_start : 52565781
Tx_end : 52573843
Exon_count : 9
Overlapped_tx_length : 8062
Overlapped_CDS_length : 1590
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52565781
Intersect_end : 52573843
608248; OMIM_ID : 608248;
OMIM_phenotype : ?Ectodermal dysplasia 7, hair/nail type, 614929 (3) AR;
?Hypotrichosis 3, 613981 (3) AD;
Woolly hair, AD, 194300 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.4056Exomiser_gene_pheno_score : 0.4056
Human_pheno_evidence : ?Ectodermal dysplasia 7, hair/nail type; Brachydactyly; Onycholysis
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:52565782-52573843P_loss_coord : 12:52565782-52573843
P_loss_source : morbid:KRT74
P_loss_phen : ?Ectodermal dysplasia 7, hair; nail type, 614929 (3) AR; ?Hypotrichosis 3, 613981 (3) AD; Woolly hair, AD, 194300 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RDH5Gene_name : RDH5;
LOEUF_bin : 8
GnomAD_pLI : 8.8720e-11
ExAC_pLI : 3.1135e-06
HI : .
TS : .
DDD_HI_percent : 38.89
ACMG : .
ExAC_cnvZ : 0.620847254186207
ExAC_delZ : 0.486847613247837
ExAC_dupZ : 0.453178202177808
ExAC_synZ : -0.637299902073639
ExAC_misZ : -0.213613923070691
GenCC_disease : RDH5-related retinopathy; fundus albipunctatus
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10369264; 11448328; 11470705; 11675386; 21529959; 22736946[PMID]_25820994[PMID]; 22815624; 25820994; 6975055
NCBI_gene_ID : 5959
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001199771
Tx_version : 3
Tx_start : 55720392
Tx_end : 55724705
Exon_count : 5
Overlapped_tx_length : 4313
Overlapped_CDS_length : 957
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55720392
Intersect_end : 55724705
601617; OMIM_ID : 601617;
OMIM_phenotype : Fundus albipunctatus, 136880 (3) AR,AD;
OMIM_inheritance : AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3927Exomiser_gene_pheno_score : 0.3927
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; delayed dark adaptation
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:55720393-55724705P_loss_coord : 12:55720393-55724705
P_loss_source : morbid:RDH5
P_loss_phen : Fundus albipunctatus, 136880 (3) AR,AD
P_loss_hpo : .
32P_snvindel_nb : 32
P_snvindel_phen : Congenital_stationary_night_blindness; Fundus_albipunctatus,_autosomal_recessive; Pigmentary_retinal_dystrophy; RDH5-related_condition; Retinal_dystrophy; Retinitis_punctata_albescens; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KERAGene_name : KERA;
LOEUF_bin : 8
GnomAD_pLI : 1.7098e-07
ExAC_pLI : 4.1437e-04
HI : 30
TS : .
DDD_HI_percent : 28.54
ACMG : .
ExAC_cnvZ : 0.250670658979763
ExAC_delZ : 0.446874733713224
ExAC_dupZ : -0.000114032673499457
ExAC_synZ : -1.55238152028716
ExAC_misZ : -1.54819698441759
GenCC_disease : congenital cornea plana; cornea plana 2
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 10802664; 10802664[PMID]; 16234475; 25967529; 31059048; 9591953
NCBI_gene_ID : 11081
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_007035
Tx_version : 4
Tx_start : 91050490
Tx_end : 91058024
Exon_count : 3
Overlapped_tx_length : 7534
Overlapped_CDS_length : 1059
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91050490
Intersect_end : 91058024
603288; OMIM_ID : 603288;
OMIM_phenotype : Cornea plana 2, AR, 217300 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3885Exomiser_gene_pheno_score : 0.3885
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal iridocorneal angle
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.06
.RE_gene : .
12:91050491-91058024P_loss_coord : 12:91050491-91058024
P_loss_source : morbid:KERA
P_loss_phen : Cornea plana 2, AR, 217300 (3) AR
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Cornea_plana_2
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DYRK2Gene_name : DYRK2;
LOEUF_bin : 0
GnomAD_pLI : 9.9751e-01
ExAC_pLI : 9.7934e-01
HI : .
TS : .
DDD_HI_percent : 17.21
ACMG : .
ExAC_cnvZ : 0.485711491060789
ExAC_delZ : 0.0571137557535225
ExAC_dupZ : 0.470066231089247
ExAC_synZ : 0.24535879958116
ExAC_misZ : 2.38470537872338
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8445
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_006482
Tx_version : 3
Tx_start : 67648744
Tx_end : 67665406
Exon_count : 3
Overlapped_tx_length : 16662
Overlapped_CDS_length : 1806
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67648744
Intersect_end : 67665406
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6412Exomiser_gene_pheno_score : 0.6412
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; absent basioccipital bone; sternebra fusion
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ITGA7Gene_name : ITGA7;
LOEUF_bin : 4
GnomAD_pLI : 4.2657e-17
ExAC_pLI : 1.8098e-09
HI : .
TS : .
DDD_HI_percent : 24.65
ACMG : .
ExAC_cnvZ : 0.439158447311687
ExAC_delZ : -0.558498517309963
ExAC_dupZ : 1.10324484750854
ExAC_synZ : -0.159023364049421
ExAC_misZ : 0.369313436203213
GenCC_disease : congenital fiber-type disproportion myopathy; congenital merosin-deficient muscular dystrophy 1A; congenital muscular dystrophy due to integrin alpha-7 deficiency
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 23800289; 23800289[PMID]; 9590299; 9590299[PMID]
NCBI_gene_ID : 3679
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001410977
Tx_version : 1
Tx_start : 55684567
Tx_end : 55707904
Exon_count : 26
Overlapped_tx_length : 23337
Overlapped_CDS_length : 3546
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55684567
Intersect_end : 55707904
600536; OMIM_ID : 600536;
OMIM_phenotype : Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3351Exomiser_gene_pheno_score : 0.3351
Human_pheno_evidence : Brachydactyly; Congenital fiber-type disproportion myopathy; Flexion contracture of finger
Mouse_pheno_evidence : Brachydactyly; abnormal soleus morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:55697675-55699446; 12:55697676-55698937P_loss_coord : 12:55697675-55699446; 12:55697676-55698937
P_loss_source : dbVar:nssv15129276; dbVar:nssv18792105
P_loss_phen : .
P_loss_hpo : .
24P_snvindel_nb : 24
P_snvindel_phen : Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KIF5AGene_name : KIF5A;
LOEUF_bin : 0
GnomAD_pLI : 9.9995e-01
ExAC_pLI : 9.9998e-01
HI : .
TS : .
DDD_HI_percent : 21.13
ACMG : .
ExAC_cnvZ : -0.199356490639355
ExAC_delZ : 0.355654077775294
ExAC_dupZ : -0.493358221307642
ExAC_synZ : 0.40129886770067
ExAC_misZ : 4.84434740586127
GenCC_disease : amyotrophic lateral sclerosis, susceptibility to, 25; autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation; hereditary spastic paraplegia 10; inherited neurodegenerative disorder; myoclonus, intractable, neonatal
GenCC_moi : AD
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 10441583; 12682084; 18203753; 21087519; 21623771[PMID]; 22466687; 23209432; 23217743; 24161670; 25352184; 25355224; 26374131; 27084214; 27414745; 27463701; 29342275; 29566793; 30301576; 31422367; 32888732; 33681666; 34758253; 836070
NCBI_gene_ID : 3798
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_004984
Tx_version : 4
Tx_start : 57550043
Tx_end : 57586633
Exon_count : 29
Overlapped_tx_length : 36590
Overlapped_CDS_length : 3099
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57550043
Intersect_end : 57586633
602821; OMIM_ID : 602821;
OMIM_phenotype : Myoclonus, intractable, neonatal, 617235 (3) AD;
Spastic paraplegia 10, AD, 604187 (3) AD;
(Amyotrophic lateral sclerosis, susceptibility to, 25), 617921 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.2864Exomiser_gene_pheno_score : 0.2864
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; impaired pupillary reflex
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:57550044-57586633P_loss_coord : 12:57550044-57586633
P_loss_source : morbid:KIF5A
P_loss_phen : Myoclonus, intractable, neonatal, 617235 (3) AD; Spastic paraplegia 10, AD, 604187 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 25, 617921 (3) AD
P_loss_hpo : .
28P_snvindel_nb : 28
P_snvindel_phen : Amyotrophic_lateral_sclerosis,_susceptibility_to,_25; Hereditary_spastic_paraplegia; Hereditary_spastic_paraplegia_10; KIF5A-Related_Disorders; KIF5A-related_condition; Myoclonus,_intractable,_neonatal; Spastic_paraplegia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MDM2Gene_name : MDM2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9541e-01
HI : .
TS : .
DDD_HI_percent : 1.12
ACMG : .
ExAC_cnvZ : -0.667730133119681
ExAC_delZ : 0.635360767676067
ExAC_dupZ : -1.2070961294051
ExAC_synZ : -0.29845798359063
ExAC_misZ : 1.74903183818554
GenCC_disease : lessel-kubisch syndrome
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 28846075
NCBI_gene_ID : 4193
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_002392
Tx_version : 6
Tx_start : 68808176
Tx_end : 68845544
Exon_count : 11
Overlapped_tx_length : 37368
Overlapped_CDS_length : 1494
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68808176
Intersect_end : 68845544
164785; OMIM_ID : 164785;
OMIM_phenotype : ?Lessel-Kubisch syndrome, 618681 (3) AR;
(Accelerated tumor formation, susceptibility to), 614401 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.4372Exomiser_gene_pheno_score : 0.4372
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; increased foot pad pigmentation
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.08
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TSFMGene_name : TSFM;
LOEUF_bin : 7
GnomAD_pLI : 1.9197e-09
ExAC_pLI : 9.8046e-08
HI : .
TS : .
DDD_HI_percent : 44.43
ACMG : .
ExAC_cnvZ : -1.57559163306434
ExAC_delZ : -1.47353613607719
ExAC_dupZ : -1.49597048114131
ExAC_synZ : -0.664912068208333
ExAC_misZ : -0.738444475346535
GenCC_disease : Leigh syndrome; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 17033963; 17033963[PMID]; 20435138; 21119709; 22499341; 25037205; 25078778; 27677415; 30911037
NCBI_gene_ID : 10102
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_001172696
Tx_version : 2
Tx_start : 57782786
Tx_end : 57797587
Exon_count : 7
Overlapped_tx_length : 14801
Overlapped_CDS_length : 1041
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57782786
Intersect_end : 57797587
604723; OMIM_ID : 604723;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 3, 610505 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3482Exomiser_gene_pheno_score : 0.3482
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:57782793-57782868; 12:57782793-57793083; 1[...]P_loss_coord : 12:57782793-57782868; 12:57782793-57793083; 12:57791946-57793093; 12:57791956-57796593; 12:57792977-57793083; 12:57792977-57796593
P_loss_source : dbVar:nssv16213879; dbVar:nssv17171452; dbVar:nssv17171453; dbVar:nssv17971813; dbVar:nssv17973798; dbVar:nssv18791713
P_loss_phen : .
P_loss_hpo : .
32P_snvindel_nb : 32
P_snvindel_phen : Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3; Inborn_genetic_diseases; Primary_dilated_cardiomyopathy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RARGGene_name : RARG;
LOEUF_bin : 0
GnomAD_pLI : 9.9478e-01
ExAC_pLI : 9.7006e-01
HI : .
TS : .
DDD_HI_percent : 14.35
ACMG : .
ExAC_cnvZ : 0.770780980217708
ExAC_delZ : 0.626094916158231
ExAC_dupZ : 0.579022482129434
ExAC_synZ : 0.62894067846264
ExAC_misZ : 3.66303754974823
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5916
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_000966
Tx_version : 6
Tx_start : 53210568
Tx_end : 53232209
Exon_count : 10
Overlapped_tx_length : 21641
Overlapped_CDS_length : 1365
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53210568
Intersect_end : 53232209
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6090Exomiser_gene_pheno_score : 0.6090
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal basioccipital bone morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OSBPL8Gene_name : OSBPL8;
LOEUF_bin : 1
GnomAD_pLI : 1.0518e-02
ExAC_pLI : 9.8835e-01
HI : .
TS : .
DDD_HI_percent : 11.66
ACMG : .
ExAC_cnvZ : 1.05081228051377
ExAC_delZ : 0.690567558528359
ExAC_dupZ : 1.00273249201778
ExAC_synZ : 0.553834483007001
ExAC_misZ : 1.99902447261577
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 114882
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : XM_047428246
Tx_version : 1
Tx_start : 76351796
Tx_end : 76559008
Exon_count : 25
Overlapped_tx_length : 207212
Overlapped_CDS_length : 2778
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76351796
Intersect_end : 76559008
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6140Exomiser_gene_pheno_score : 0.6140
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal eye morphology; abnormal sternum morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DENND5BGene_name : DENND5B;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9995e-01
HI : .
TS : .
DDD_HI_percent : 57.04
ACMG : .
ExAC_cnvZ : 0.706727862864978
ExAC_delZ : -0.156068886506676
ExAC_dupZ : 1.12119821854226
ExAC_synZ : -0.462180764793211
ExAC_misZ : 2.99967264225011
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160518
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : XM_047428415
Tx_version : 1
Tx_start : 31382225
Tx_end : 31500652
Exon_count : 23
Overlapped_tx_length : 118427
Overlapped_CDS_length : 4041
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31382225
Intersect_end : 31500652
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5953Exomiser_gene_pheno_score : 0.5953
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC4Gene_name : HOXC4;
LOEUF_bin : 3
GnomAD_pLI : 1.6846e-01
ExAC_pLI : 3.1149e-01
HI : .
TS : .
DDD_HI_percent : 10.5
ACMG : .
ExAC_cnvZ : 0.706859659207223
ExAC_delZ : 0.262771709807929
ExAC_dupZ : 0.636068483899632
ExAC_synZ : 2.2314279336267
ExAC_misZ : 1.86074930000501
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3221
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_014620
Tx_version : 6
Tx_start : 54016887
Tx_end : 54056030
Exon_count : 4
Overlapped_tx_length : 39143
Overlapped_CDS_length : 795
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54016887
Intersect_end : 54056030
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6287Exomiser_gene_pheno_score : 0.6287
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IFNGGene_name : IFNG;
LOEUF_bin : 4
GnomAD_pLI : 4.7156e-01
ExAC_pLI : 2.0447e-02
HI : .
TS : .
DDD_HI_percent : 3.19
ACMG : .
ExAC_cnvZ : 0.279037403803662
ExAC_delZ : 0.425031182133285
ExAC_dupZ : 0.0436325677813211
ExAC_synZ : 0.0639283450121429
ExAC_misZ : 1.21996539792152
GenCC_disease : immunodeficiency 69
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 32163377
NCBI_gene_ID : 3458
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_000619
Tx_version : 3
Tx_start : 68154767
Tx_end : 68159740
Exon_count : 4
Overlapped_tx_length : 4973
Overlapped_CDS_length : 501
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68154767
Intersect_end : 68159740
147570; OMIM_ID : 147570;
OMIM_phenotype : ?Immunodeficiency 69, mycobacteriosis, 618963 (3) AR;
(AIDS, rapid progression to), 609423 (3);
(Aplastic anemia), 609135 (3);
(Hepatitis C virus, response to therapy of), 609532 (3);
(TSC2 angiomyolipomas, renal, modifier of), 613254 (3) AD;
(Tuberculosis, protection against), 607948 (3);
OMIM_inheritance : AD; AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.3465Exomiser_gene_pheno_score : 0.3465
Human_pheno_evidence : Brachydactyly; Subungual fibromas; TSC2 angiomyolipomas, renal, modifier of
Mouse_pheno_evidence : Craniosynostosis; alveolar process atrophy
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.17
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MSRB3Gene_name : MSRB3;
LOEUF_bin : 6
GnomAD_pLI : 3.7660e-03
ExAC_pLI : 7.0268e-03
HI : 30
TS : 0
DDD_HI_percent : 15.61
ACMG : .
ExAC_cnvZ : -0.341595993962896
ExAC_delZ : -0.364734875394086
ExAC_dupZ : -0.313352021032889
ExAC_synZ : -0.12672149867469
ExAC_misZ : 0.726933990409373
GenCC_disease : autosomal recessive nonsyndromic hearing loss 74; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 19650862; 21185009; 24148127[PMID]; 24191262; 24949729; 250970; 26649646
NCBI_gene_ID : 253827
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_198080
Tx_version : 4
Tx_start : 65278682
Tx_end : 65466907
Exon_count : 6
Overlapped_tx_length : 188225
Overlapped_CDS_length : 579
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65278682
Intersect_end : 65466907
613719; OMIM_ID : 613719;
OMIM_phenotype : Deafness, AR 74, 613718 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3119Exomiser_gene_pheno_score : 0.3119
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal outer hair cell stereociliary bundle morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:65305105-65466907; 12:65326807-65328623P_loss_coord : 12:65305105-65466907; 12:65326807-65328623
P_loss_source : dbVar:nssv18790303; morbid:MSRB3
P_loss_phen : Deafness, AR 74, 613718 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_74
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SOCS2Gene_name : SOCS2;
LOEUF_bin : 3
GnomAD_pLI : 6.2999e-01
ExAC_pLI : 9.8530e-02
HI : .
TS : .
DDD_HI_percent : 10.58
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.132540685596616
ExAC_misZ : 1.39565441817948
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8835
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : XM_017020147
Tx_version : 2
Tx_start : 93569968
Tx_end : 93576203
Exon_count : 4
Overlapped_tx_length : 6235
Overlapped_CDS_length : 732
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93569968
Intersect_end : 93576203
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6264Exomiser_gene_pheno_score : 0.6264
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; long radius
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC9Gene_name : HOXC9;
LOEUF_bin : 6
GnomAD_pLI : 1.2993e-02
ExAC_pLI : 1.2810e-01
HI : .
TS : .
DDD_HI_percent : 6.95
ACMG : .
ExAC_cnvZ : 0.713724934697255
ExAC_delZ : 0.271718669563953
ExAC_dupZ : 0.643315967561734
ExAC_synZ : 2.83566526727151
ExAC_misZ : 2.81936054391489
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3225
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_006897
Tx_version : 3
Tx_start : 54000160
Tx_end : 54003337
Exon_count : 2
Overlapped_tx_length : 3177
Overlapped_CDS_length : 783
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54000160
Intersect_end : 54003337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6602Exomiser_gene_pheno_score : 0.6602
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; asymmetric sternocostal joints
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC10Gene_name : HOXC10;
LOEUF_bin : 3
GnomAD_pLI : 1.7368e-01
ExAC_pLI : 6.4835e-01
HI : .
TS : .
DDD_HI_percent : 5.45
ACMG : .
ExAC_cnvZ : 0.546249813343244
ExAC_delZ : 0.104727202529942
ExAC_dupZ : 0.501992502121547
ExAC_synZ : 2.2312644975755
ExAC_misZ : 1.33383182807273
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3226
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_017409
Tx_version : 4
Tx_start : 53985145
Tx_end : 53990279
Exon_count : 2
Overlapped_tx_length : 5134
Overlapped_CDS_length : 1029
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53985145
Intersect_end : 53990279
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6213Exomiser_gene_pheno_score : 0.6213
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal bone mineralization; abnormal pelvic girdle bone morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYL2Gene_name : MYL2;
LOEUF_bin : 8
GnomAD_pLI : 2.7303e-08
ExAC_pLI : 1.6813e-02
HI : 30
TS : 0
DDD_HI_percent : 18.05
ACMG : ACMG
ExAC_cnvZ : 0.592722466273153
ExAC_delZ : 0.443807021193852
ExAC_dupZ : 0.519767078086166
ExAC_synZ : -0.264522082167926
ExAC_misZ : 0.918227252651312
GenCC_disease : arrhythmogenic right ventricular cardiomyopathy; congenital fiber-type disproportion myopathy; dilated cardiomyopathy; hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 10; myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Moderate; No Known Disease Relationship; Strong; Supportive
GenCC_pmid : 11102452; 12404107; 12668451; 12707239; 16076902; 16837010; 18533079; 18929571; 19914255; 22429680; 23343568; 23365102; 23365102[PMID]; 24111713; 25324513; 25611685; 28007147; 28640247; 28912181; 29988065; 30681346; 30696458; 32453731; 32731933; 8673105; 9535554
NCBI_gene_ID : 4633
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_000432
Tx_version : 4
Tx_start : 110910844
Tx_end : 110920579
Exon_count : 7
Overlapped_tx_length : 9735
Overlapped_CDS_length : 501
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110910844
Intersect_end : 110920579
160781; OMIM_ID : 160781;
OMIM_phenotype : Cardiomyopathy, hypertrophic, 10, 608758 (3) AD;
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3275Exomiser_gene_pheno_score : 0.3275
Human_pheno_evidence : Brachydactyly; Congenital fiber-type disproportion myopathy; Flexion contracture of finger
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
6P_snvindel_nb : 6
P_snvindel_phen : Cardiomyopathy; Cardiovascular_phenotype; Death_in_early_adulthood; Hypertrophic_cardiomyopathy; Hypertrophic_cardiomyopathy_10; MYL2-related_condition; Myopathy,_myofibrillar,_12,_infantile-onset,_with_cardiomyopathy; Primary_familial_hypertrophic_cardiomyopathy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SH2B3Gene_name : SH2B3;
LOEUF_bin : 4
GnomAD_pLI : 1.0289e-04
ExAC_pLI : 5.9222e-03
HI : .
TS : .
DDD_HI_percent : 61.02
ACMG : .
ExAC_cnvZ : 1.01485176229124
ExAC_delZ : 0.553730001436978
ExAC_dupZ : 0.894031979896815
ExAC_synZ : 2.05920878222505
ExAC_misZ : 0.65429198798737
GenCC_disease : growth retardation-mild developmental delay-chronic hepatitis syndrome; primary familial polycythemia due to EPO receptor mutation; schizophrenia; thrombocythemia 1
GenCC_moi : AR
GenCC_classification : No Known Disease Relationship; Supportive
GenCC_pmid : 23908464[PMID]; 24777453; 26666178; 27216218; 27237057; 27651169; 29703677
NCBI_gene_ID : 10019
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : 5'UTR-3'UTR
Tx : XM_011537720
Tx_version : 4
Tx_start : 111404729
Tx_end : 111451623
Exon_count : 9
Overlapped_tx_length : 46894
Overlapped_CDS_length : 1851
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111404729
Intersect_end : 111451623
605093; OMIM_ID : 605093;
OMIM_phenotype : Erythrocytosis, somatic, 133100 (3);
Myelofibrosis, somatic, 254450 (3);
Thrombocythemia, somatic, 187950 (3);
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.2849Exomiser_gene_pheno_score : 0.2849
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal megakaryocyte morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:111445028-111451623P_loss_coord : 12:111445028-111451623
P_loss_source : morbid:SH2B3
P_loss_phen : Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3)
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Hereditary_cancer-predisposing_syndrome; Primary_familial_polycythemia_due_to_EPO_receptor_mutation; Thrombocythemia_1
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HSPB8Gene_name : HSPB8;
LOEUF_bin : 6
GnomAD_pLI : 4.3128e-02
ExAC_pLI : 2.7755e-02
HI : .
TS : .
DDD_HI_percent : 67.09
ACMG : .
ExAC_cnvZ : 0.264906654204911
ExAC_delZ : 0.655731697618644
ExAC_dupZ : -0.0433795813006844
ExAC_synZ : 1.06988432903888
ExAC_misZ : 0.227907376816929
GenCC_disease : Charcot-Marie-Tooth disease axonal type 2L; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome; distal hereditary motor neuropathy type 2; neuronopathy, distal hereditary motor, autosomal dominant; neuronopathy, distal hereditary motor, type 2A
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15021985; 15122253; 15122253[PMID]; 15565283; 20157854; 20301462[PMID]; 20538880; 21983727; 21985219; 22176143; 26718575; 26718575[PMID]; 28501893; 8817349
NCBI_gene_ID : 26353
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_014365
Tx_version : 3
Tx_start : 119178930
Tx_end : 119194746
Exon_count : 3
Overlapped_tx_length : 15816
Overlapped_CDS_length : 591
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119178930
Intersect_end : 119194746
608014; OMIM_ID : 608014;
OMIM_phenotype : Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) AD;
Neuronopathy, distal hereditary motor, AD 2, 158590 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3037Exomiser_gene_pheno_score : 0.3037
Human_pheno_evidence : Brachydactyly; Neuronopathy, distal hereditary motor, type IIA; Paresis of extensor muscles of the big toe
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:119178931-119194746P_loss_coord : 12:119178931-119194746
P_loss_source : morbid:HSPB8
P_loss_phen : Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) AD; Neuronopathy, distal hereditary motor, AD 2, 158590 (3) AD
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease_axonal_type_2L; Neuronopathy,_distal_hereditary_motor,_type_2A
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NAA25Gene_name : NAA25;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 13.37
ACMG : .
ExAC_cnvZ : 1.44782854437233
ExAC_delZ : 1.34054566482752
ExAC_dupZ : 1.10610574240555
ExAC_synZ : 0.86070913601657
ExAC_misZ : 3.15956368616004
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80018
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_024953
Tx_version : 4
Tx_start : 112026688
Tx_end : 112108783
Exon_count : 24
Overlapped_tx_length : 82095
Overlapped_CDS_length : 2919
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112026688
Intersect_end : 112108783
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5830Exomiser_gene_pheno_score : 0.5830
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal sternum morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IRAK3Gene_name : IRAK3;
LOEUF_bin : 8
GnomAD_pLI : 5.3092e-21
ExAC_pLI : 3.5818e-15
HI : .
TS : .
DDD_HI_percent : 60.65
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.0901141372561782
ExAC_misZ : -1.66958942160253
GenCC_disease : asthma-related traits, susceptibility to, 5
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 11213
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_007199
Tx_version : 3
Tx_start : 66189213
Tx_end : 66254622
Exon_count : 12
Overlapped_tx_length : 65409
Overlapped_CDS_length : 1791
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66189213
Intersect_end : 66254622
604459; OMIM_ID : 604459;
OMIM_phenotype : (Asthma susceptibility 5), 611064 (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.4960Exomiser_gene_pheno_score : 0.4960
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal trabecular bone morphology; decreased diameter of femur
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ORAI1Gene_name : ORAI1;
LOEUF_bin : 9
GnomAD_pLI : 1.9068e-05
ExAC_pLI : 3.0534e-03
HI : .
TS : .
DDD_HI_percent : 35.62
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.491750395328908
ExAC_misZ : 2.33598558700082
GenCC_disease : Stormorken syndrome; combined immunodeficiency due to ORAI1 deficiency; myopathy, tubular aggregate, 2; tubular aggregate myopathy
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15452313; 16582901; 18187424; 20004786; 20956344; 22641696; 24591628; 24591628[PMID]; 25227914; 26070885; NULL
NCBI_gene_ID : 84876
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_186857
Tx_version : 1
Tx_start : 121626529
Tx_end : 121643109
Exon_count : 2
Overlapped_tx_length : 16580
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121626529
Intersect_end : 121643109
610277; OMIM_ID : 610277;
OMIM_phenotype : Immunodeficiency 9, 612782 (3) AR;
Myopathy, tubular aggregate, 2, 615883 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3277Exomiser_gene_pheno_score : 0.3277
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; blepharitis
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.06
.RE_gene : .
12:121626530-121643109; 12:121626744-121627070P_loss_coord : 12:121626530-121643109; 12:121626744-121627070
P_loss_source : dbVar:nssv17975070; morbid:ORAI1
P_loss_phen : Immunodeficiency 9, 612782 (3) AR; Myopathy, tubular aggregate, 2, 615883 (3) AD
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Combined_immunodeficiency_due_to_ORAI1_deficiency; Myopathy,_tubular_aggregate,_2
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYF6Gene_name : MYF6;
LOEUF_bin : 6
GnomAD_pLI : 4.1218e-03
ExAC_pLI : 7.6286e-02
HI : .
TS : .
DDD_HI_percent : 3.19
ACMG : .
ExAC_cnvZ : -0.0327670221552589
ExAC_delZ : -0.835150811707908
ExAC_dupZ : 0.507450842899403
ExAC_synZ : 1.51000508429559
ExAC_misZ : 1.21057538625042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4618
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_002469
Tx_version : 3
Tx_start : 80707633
Tx_end : 80709474
Exon_count : 3
Overlapped_tx_length : 1841
Overlapped_CDS_length : 729
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80707633
Intersect_end : 80709474
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6412Exomiser_gene_pheno_score : 0.6412
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology; abnormal sternum ossification
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:80502697-80806958
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ALG10Gene_name : ALG10;
LOEUF_bin : 6
GnomAD_pLI : 1.3151e-06
ExAC_pLI : 5.7491e-03
HI : .
TS : .
DDD_HI_percent : 78.43
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.729374533840106
ExAC_misZ : 0.192366099362242
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84920
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : 5'UTR-3'UTR
Tx : NM_032834
Tx_version : 4
Tx_start : 34022495
Tx_end : 34028302
Exon_count : 3
Overlapped_tx_length : 5807
Overlapped_CDS_length : 1422
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 34022495
Intersect_end : 34028302
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.4496Exomiser_gene_pheno_score : 0.4496
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb bud morphology; abnormal optic vesicle formation
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
esv2761043B_loss_source : esv2761043
B_loss_coord : 12:33141565-34701563
B_loss_AFmax : 0.0400
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ALG10BGene_name : ALG10B;
LOEUF_bin : 7
GnomAD_pLI : 2.0263e-08
ExAC_pLI : 1.5277e-04
HI : .
TS : .
DDD_HI_percent : 65.23
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.35962826981283
ExAC_misZ : -1.08145350626351
GenCC_disease : long QT syndrome 2
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 3707172
NCBI_gene_ID : 144245
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001013620
Tx_version : 4
Tx_start : 38316773
Tx_end : 38329721
Exon_count : 3
Overlapped_tx_length : 12948
Overlapped_CDS_length : 1422
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 38316773
Intersect_end : 38329721
603313; OMIM_ID : 603313;
OMIM_phenotype : (Long QT syndrome, acquired, reduced susceptibility to), 613688 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.4496Exomiser_gene_pheno_score : 0.4496
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb bud morphology; abnormal optic vesicle formation
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMPOGene_name : TMPO;
LOEUF_bin : 5
GnomAD_pLI : 1.5453e-07
ExAC_pLI : 6.5954e-04
HI : .
TS : .
DDD_HI_percent : 9.68
ACMG : .
ExAC_cnvZ : 0.802279907248399
ExAC_delZ : 0.677222324859736
ExAC_dupZ : 0.572047628751819
ExAC_synZ : -2.03401936667694
ExAC_misZ : -0.717986942958708
GenCC_disease : dilated cardiomyopathy; familial isolated dilated cardiomyopathy; hypertrophic cardiomyopathy
GenCC_moi : AD
GenCC_classification : No Known Disease Relationship; Refuted Evidence; Supportive
GenCC_pmid : 16247757[PMID]_20301486[PMID]
NCBI_gene_ID : 7112
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_003276
Tx_version : 2
Tx_start : 98515572
Tx_end : 98535634
Exon_count : 4
Overlapped_tx_length : 20062
Overlapped_CDS_length : 2085
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98515572
Intersect_end : 98535634
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6027Exomiser_gene_pheno_score : 0.6027
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal autopod morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TPH2Gene_name : TPH2;
LOEUF_bin : 4
GnomAD_pLI : 2.5364e-07
ExAC_pLI : 6.9691e-01
HI : .
TS : .
DDD_HI_percent : 14.47
ACMG : .
ExAC_cnvZ : 0.716297068298831
ExAC_delZ : -0.0315127450584532
ExAC_dupZ : 1.09592227055577
ExAC_synZ : -1.11359731609589
ExAC_misZ : 1.03632517338037
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6999
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_173353
Tx_version : 4
Tx_start : 71938844
Tx_end : 72032440
Exon_count : 11
Overlapped_tx_length : 93596
Overlapped_CDS_length : 1473
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71938844
Intersect_end : 72032440
607478; OMIM_ID : 607478;
OMIM_phenotype : (?Attention deficit-hyperactivity disorder, susceptibility to, 7), 613003 (3);
(Unipolar depression, susceptibility to), 608516 (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.4056Exomiser_gene_pheno_score : 0.4056
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLS2Gene_name : GLS2;
LOEUF_bin : 4
GnomAD_pLI : 1.3239e-10
ExAC_pLI : 9.8712e-04
HI : .
TS : .
DDD_HI_percent : 12.72
ACMG : .
ExAC_cnvZ : 0.788454514380325
ExAC_delZ : 0.630430391176599
ExAC_dupZ : 0.692769903467694
ExAC_synZ : -0.695606324604828
ExAC_misZ : 2.50373251761168
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27165
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_013267
Tx_version : 4
Tx_start : 56470951
Tx_end : 56488161
Exon_count : 18
Overlapped_tx_length : 17210
Overlapped_CDS_length : 1809
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56470951
Intersect_end : 56488161
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5830Exomiser_gene_pheno_score : 0.5830
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal sternum morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC38A2Gene_name : SLC38A2;
LOEUF_bin : 0
GnomAD_pLI : 9.9709e-01
ExAC_pLI : 9.6936e-01
HI : .
TS : .
DDD_HI_percent : 31.23
ACMG : .
ExAC_cnvZ : 0.336843036702361
ExAC_delZ : -0.250255311150847
ExAC_dupZ : 0.621280026030354
ExAC_synZ : -0.933421575226352
ExAC_misZ : 0.481108062927941
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54407
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_018976
Tx_version : 5
Tx_start : 46358187
Tx_end : 46372773
Exon_count : 16
Overlapped_tx_length : 14586
Overlapped_CDS_length : 1521
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46358187
Intersect_end : 46372773
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5178Exomiser_gene_pheno_score : 0.5178
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal femur morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NUP37Gene_name : NUP37;
LOEUF_bin : 5
GnomAD_pLI : 1.0763e-05
ExAC_pLI : 9.9833e-04
HI : .
TS : .
DDD_HI_percent : 6.45
ACMG : .
ExAC_cnvZ : 0.522795711066576
ExAC_delZ : 0.132648528656142
ExAC_dupZ : 0.570945804186198
ExAC_synZ : 0.367070237645818
ExAC_misZ : 0.43442461608383
GenCC_disease : familial idiopathic steroid-resistant nephrotic syndrome
GenCC_moi : AD
GenCC_classification : Supportive
GenCC_pmid : 30179222[PMID]
NCBI_gene_ID : 79023
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_024057
Tx_version : 4
Tx_start : 102073102
Tx_end : 102120114
Exon_count : 10
Overlapped_tx_length : 47012
Overlapped_CDS_length : 981
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102073102
Intersect_end : 102120114
609264; OMIM_ID : 609264;
OMIM_phenotype : ?Microcephaly 24, primary, AR, 618179 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.3857Exomiser_gene_pheno_score : 0.3857
Human_pheno_evidence : ?Microcephaly 24, primary, autosomal recessive; Brachydactyly; Clinodactyly of the 5th finger
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.07
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Microcephaly_24,_primary,_autosomal_recessive
dbVarB_loss_source : dbVar
B_loss_coord : chr12:102057222-102377222
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NCOR2Gene_name : NCOR2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 17.66
ACMG : .
ExAC_cnvZ : -1.38513631558266
ExAC_delZ : -0.0404775661326292
ExAC_dupZ : -1.90330344693036
ExAC_synZ : -1.26194197382491
ExAC_misZ : 2.23462853607651
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9612
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_006312
Tx_version : 6
Tx_start : 124324414
Tx_end : 124567612
Exon_count : 49
Overlapped_tx_length : 243198
Overlapped_CDS_length : 7545
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124324414
Intersect_end : 124567612
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4833Exomiser_gene_pheno_score : 0.4833
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; long tibia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HCAR1Gene_name : HCAR1;
LOEUF_bin : 8
GnomAD_pLI : 7.5927e-04
ExAC_pLI : 1.4100e-01
HI : .
TS : .
DDD_HI_percent : 70.87
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.925604044120751
ExAC_misZ : -0.132017843737803
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27198
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_032554
Tx_version : 4
Tx_start : 122726075
Tx_end : 122730844
Exon_count : 1
Overlapped_tx_length : 4769
Overlapped_CDS_length : 1041
Overlapped_CDS_percent : 67
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122726075
Intersect_end : 122730844
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5819Exomiser_gene_pheno_score : 0.5819
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal pelvic girdle bone morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PKP2Gene_name : PKP2;
LOEUF_bin : 5
GnomAD_pLI : 3.1147e-18
ExAC_pLI : 6.1431e-10
HI : 3
TS : 0
DDD_HI_percent : 58.3
ACMG : ACMG
ExAC_cnvZ : 1.05692421335637
ExAC_delZ : 0.393088014266191
ExAC_dupZ : 1.17235571368516
ExAC_synZ : 0.989350863734272
ExAC_misZ : -0.104314724560747
GenCC_disease : Brugada syndrome; Brugada syndrome 1; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 9; catecholaminergic polymorphic ventricular tachycardia; dilated cardiomyopathy; left ventricular noncompaction
GenCC_moi : AD
GenCC_classification : Definitive; Disputed Evidence; Limited; Strong; Supportive
GenCC_pmid : 15489853; 17010805; 17041889; 20301310; 20716751; 21636032; 21859740; 22781308; 23736219; 23911551; 24070718; 24704780; 25616645; 27030002[PMID]; 28740174; 30619891; 30830208; 33831308; 34120153
NCBI_gene_ID : 5318
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_004572
Tx_version : 4
Tx_start : 32790754
Tx_end : 32896777
Exon_count : 14
Overlapped_tx_length : 106023
Overlapped_CDS_length : 2646
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32790754
Intersect_end : 32896777
602861; OMIM_ID : 602861;
OMIM_phenotype : Arrhythmogenic right ventricular dysplasia 9, 609040 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:32790756-32896777; 12:32792405-32824182; 1[...]P_loss_coord : 12:32790756-32896777; 12:32792405-32824182; 12:32792405-32896751; 12:32792415-32796308; 12:32792415-32896741; 12:32792425-32796318; 12:32796090-32796318; 12:32796090-32802576; 12:32796100-32796308; 12:32796100-32802566; 12:32796110-32802556; 12:32801396-32802409; 12:32802384-32802576; 12:32820144-32896777; 12:32824026-32824182; 12:32824036-32824172; 12:32824046-32824162; 12:32841027-32841207; 12:32841028-32841206; 12:32841028-32850974; 12:32842944-32843250; 12:32843316-32868927; 12:32850747-32850993; 12:32850757-32850983; 12:32850761-32850979; 12:32868908-32869082; 12:32868908-32879052; 12:32868918-32869072; 12:32868918-32879042; 12:32877827-32879052; 12:32877827-32896731; 12:32877837-32879042; 12:32877837-32896741; 12:32877847-32879032; 12:32878982-32880672; 12:32878983-32880671
P_loss_source : CLN:1319957; CLN:565438; HI3:PKP2; dbVar:nssv15123508; dbVar:nssv15129211; dbVar:nssv15129895; dbVar:nssv15130056; dbVar:nssv15143997; dbVar:nssv15144634; nssv18326715; dbVar:nssv15144750; dbVar:nssv15144775; dbVar:nssv15770355; dbVar:nssv16211823; dbVar:nssv16212093; dbVar:nssv16213957; dbVar:nssv16214183; dbVar:nssv16214307; dbVar:nssv16216585; dbVar:nssv17171757; dbVar:nssv17171758; dbVar:nssv17171759; dbVar:nssv17171760; dbVar:nssv17172197; dbVar:nssv17955823; dbVar:nssv17971165; dbVar:nssv17972203; dbVar:nssv17972980; dbVar:nssv17973863; dbVar:nssv18789887; dbVar:nssv18789888; dbVar:nssv18789889; dbVar:nssv18789890; dbVar:nssv18792554; dbVar:nssv18792892; dbVar:nssv8639447; morbid:PKP2
P_loss_phen : Arrhythmogenic right ventricular dysplasia 9, 609040 (3) AD; Cardiomyopathy; Cardiovascular_phenotype|Arrhythmogenic_right_ventricular_dysplasia_9
P_loss_hpo : HP:0001638
204P_snvindel_nb : 204
P_snvindel_phen : Aborted_sudden_cardiac_death; Arrhythmogenic_right_ventricular_cardiomyopathy; Arrhythmogenic_right_ventricular_dysplasia_1; Arrhythmogenic_right_ventricular_dysplasia_9; Arrhythmogenic_ventricular_cardiomyopathy; Cardiac_arrhythmia; Cardiomyopathy; Cardiovascular_phenotype; Familial_isolated_arrhythmogenic_right_ventricular_dysplasia; PKP2-related_condition; Sudden_unexplained_death; Ventricular_tachycardia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FRS2Gene_name : FRS2;
LOEUF_bin : 0
GnomAD_pLI : 9.9721e-01
ExAC_pLI : 9.7907e-01
HI : .
TS : .
DDD_HI_percent : 1.16
ACMG : .
ExAC_cnvZ : 0.603164804443116
ExAC_delZ : 0.490664535249188
ExAC_dupZ : 0.404519593732538
ExAC_synZ : -0.278988323783655
ExAC_misZ : 1.10651966626862
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10818
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_001042555
Tx_version : 3
Tx_start : 69470387
Tx_end : 69579793
Exon_count : 10
Overlapped_tx_length : 109406
Overlapped_CDS_length : 1527
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69470387
Intersect_end : 69579793
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4745Exomiser_gene_pheno_score : 0.4745
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb morphology; anophthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM119Gene_name : TMEM119;
LOEUF_bin : 5
GnomAD_pLI : 6.2503e-01
ExAC_pLI : 9.5674e-03
HI : .
TS : .
DDD_HI_percent : 83.64
ACMG : .
ExAC_cnvZ : 0.537027244444024
ExAC_delZ : 0.161692207256206
ExAC_dupZ : 0.489276440552992
ExAC_synZ : -0.169762146401214
ExAC_misZ : -0.65205495991885
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338773
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_181724
Tx_version : 3
Tx_start : 108589850
Tx_end : 108598084
Exon_count : 2
Overlapped_tx_length : 8234
Overlapped_CDS_length : 852
Overlapped_CDS_percent : 98
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108589850
Intersect_end : 108598084
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5386Exomiser_gene_pheno_score : 0.5386
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; delayed endochondral bone ossification
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
P2RX7Gene_name : P2RX7;
LOEUF_bin : 5
GnomAD_pLI : 3.3344e-11
ExAC_pLI : 3.7897e-06
HI : .
TS : .
DDD_HI_percent : 53.8
ACMG : .
ExAC_cnvZ : -0.161392363997259
ExAC_delZ : 0.966151619591823
ExAC_dupZ : -0.652609455179337
ExAC_synZ : -0.146151095436323
ExAC_misZ : 0.458452876320462
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5027
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_002562
Tx_version : 6
Tx_start : 121132875
Tx_end : 121188032
Exon_count : 13
Overlapped_tx_length : 55157
Overlapped_CDS_length : 1788
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121132875
Intersect_end : 121188032
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5335Exomiser_gene_pheno_score : 0.5335
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal skeleton physiology; decreased diameter of femur
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CORO1CGene_name : CORO1C;
LOEUF_bin : 0
GnomAD_pLI : 9.9813e-01
ExAC_pLI : 9.9727e-01
HI : .
TS : .
DDD_HI_percent : 33.94
ACMG : .
ExAC_cnvZ : 1.40290369714728
ExAC_delZ : 0.965833570341675
ExAC_dupZ : 1.1872032513978
ExAC_synZ : -0.753726904805482
ExAC_misZ : 2.31313032229499
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23603
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001105237
Tx_version : 2
Tx_start : 108645108
Tx_end : 108702998
Exon_count : 11
Overlapped_tx_length : 57890
Overlapped_CDS_length : 1584
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108645108
Intersect_end : 108702998
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4548Exomiser_gene_pheno_score : 0.4548
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; basisphenoid bone foramen
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRIG3Gene_name : LRIG3;
LOEUF_bin : 3
GnomAD_pLI : 1.1655e-09
ExAC_pLI : 4.2629e-01
HI : .
TS : .
DDD_HI_percent : 42.67
ACMG : .
ExAC_cnvZ : -0.493486212544616
ExAC_delZ : -1.73171537600473
ExAC_dupZ : 0.402066295124461
ExAC_synZ : 0.522593608800955
ExAC_misZ : 0.744537884200646
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121227
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_153377
Tx_version : 5
Tx_start : 58872154
Tx_end : 58920504
Exon_count : 19
Overlapped_tx_length : 48350
Overlapped_CDS_length : 3360
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58872154
Intersect_end : 58920504
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4881Exomiser_gene_pheno_score : 0.4881
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal caudal vertebrae morphology; abnormal cranium morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DIP2BGene_name : DIP2B;
LOEUF_bin : 0
GnomAD_pLI : 9.9924e-01
ExAC_pLI : 9.9967e-01
HI : .
TS : .
DDD_HI_percent : 27.8
ACMG : .
ExAC_cnvZ : 1.85937346161046
ExAC_delZ : 1.49877452958391
ExAC_dupZ : 1.74259227422189
ExAC_synZ : -0.342715073991275
ExAC_misZ : 2.94498922134151
GenCC_disease : intellectual disability, FRA12A type
GenCC_moi : AD
GenCC_classification : Limited; No Known Disease Relationship
GenCC_pmid : 17236128
NCBI_gene_ID : 57609
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_173602
Tx_version : 3
Tx_start : 50504984
Tx_end : 50748657
Exon_count : 38
Overlapped_tx_length : 243673
Overlapped_CDS_length : 4731
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50504984
Intersect_end : 50748657
611379; OMIM_ID : 611379;
OMIM_phenotype : Intellectual developmental disorder, AD, FRA12A type, 136630 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
12:50504985-50748657P_loss_coord : 12:50504985-50748657
P_loss_source : morbid:DIP2B
P_loss_phen : Intellectual developmental disorder, AD, FRA12A type, 136630 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Intellectual_disability,_FRA12A_type
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
P2RX4Gene_name : P2RX4;
LOEUF_bin : 7
GnomAD_pLI : 4.9835e-12
ExAC_pLI : 2.3680e-09
HI : .
TS : .
DDD_HI_percent : 47.78
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.32758278656826
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.786763539527925
ExAC_misZ : 0.927751650031918
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5025
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001256796
Tx_version : 2
Tx_start : 121210128
Tx_end : 121234106
Exon_count : 13
Overlapped_tx_length : 23978
Overlapped_CDS_length : 1215
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121210128
Intersect_end : 121234106
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5255Exomiser_gene_pheno_score : 0.5255
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal clavicle morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATF7Gene_name : ATF7;
LOEUF_bin : 0
GnomAD_pLI : 9.9840e-01
ExAC_pLI : 9.8331e-01
HI : .
TS : .
DDD_HI_percent : 17
ACMG : .
ExAC_cnvZ : 0.988425751418793
ExAC_delZ : 0.512590749342486
ExAC_dupZ : 0.880534217663937
ExAC_synZ : 0.928526121716132
ExAC_misZ : 1.58756904974958
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11016
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001366555
Tx_version : 2
Tx_start : 53512053
Tx_end : 53626382
Exon_count : 12
Overlapped_tx_length : 114329
Overlapped_CDS_length : 1485
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53512053
Intersect_end : 53626382
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4329Exomiser_gene_pheno_score : 0.4329
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KDM2BGene_name : KDM2B;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9979e-01
HI : .
TS : .
DDD_HI_percent : 18.62
ACMG : .
ExAC_cnvZ : 0.646283591236148
ExAC_delZ : 1.0071198646253
ExAC_dupZ : 0.309186802863942
ExAC_synZ : 0.335932104042547
ExAC_misZ : 4.69330567868618
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84678
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_011538867
Tx_version : 4
Tx_start : 121408460
Tx_end : 121581023
Exon_count : 24
Overlapped_tx_length : 172563
Overlapped_CDS_length : 4200
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121408460
Intersect_end : 121581023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4267Exomiser_gene_pheno_score : 0.4267
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal optic fissure closure; curly tail
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CBX5Gene_name : CBX5;
LOEUF_bin : 1
GnomAD_pLI : 9.3174e-01
ExAC_pLI : 8.3500e-01
HI : .
TS : .
DDD_HI_percent : 3.41
ACMG : .
ExAC_cnvZ : 1.56972523683598
ExAC_delZ : 1.1738932102683
ExAC_dupZ : 1.30150967753185
ExAC_synZ : 0.178976228338169
ExAC_misZ : 2.3812255602979
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23468
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_012117
Tx_version : 3
Tx_start : 54230941
Tx_end : 54280122
Exon_count : 5
Overlapped_tx_length : 49181
Overlapped_CDS_length : 576
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54230941
Intersect_end : 54280122
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4402Exomiser_gene_pheno_score : 0.4402
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; vertebral fusion
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
EPYCGene_name : EPYC;
LOEUF_bin : 7
GnomAD_pLI : 5.7495e-07
ExAC_pLI : 5.0530e-05
HI : .
TS : .
DDD_HI_percent : 39.88
ACMG : .
ExAC_cnvZ : -0.135276961206832
ExAC_delZ : 0.325665448734463
ExAC_dupZ : -0.395087338884113
ExAC_synZ : -0.343696859541819
ExAC_misZ : -1.52875784554945
GenCC_disease : schizophrenia
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 1833
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_004950
Tx_version : 5
Tx_start : 90963681
Tx_end : 91004972
Exon_count : 7
Overlapped_tx_length : 41291
Overlapped_CDS_length : 969
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90963681
Intersect_end : 91004972
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.5230Exomiser_gene_pheno_score : 0.5230
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; osteoarthritis; short femur
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GRIP1Gene_name : GRIP1;
LOEUF_bin : 1
GnomAD_pLI : 5.0828e-01
ExAC_pLI : 9.1689e-01
HI : 30
TS : 0
DDD_HI_percent : 18.89
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.488878706386733
ExAC_misZ : 1.36280585419541
GenCC_disease : Fraser syndrome; Fraser syndrome 1; Fraser syndrome 3
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 22510445; 22510445[PMID]; 24357607
NCBI_gene_ID : 23426
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : XM_017019098
Tx_version : 2
Tx_start : 66347430
Tx_end : 66646371
Exon_count : 24
Overlapped_tx_length : 298941
Overlapped_CDS_length : 3567
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66347430
Intersect_end : 66646371
604597; OMIM_ID : 604597;
OMIM_phenotype : Fraser syndrome 3, 617667 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.1
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRDM4Gene_name : PRDM4;
LOEUF_bin : 3
GnomAD_pLI : 1.3238e-03
ExAC_pLI : 8.3320e-01
HI : .
TS : .
DDD_HI_percent : 22.96
ACMG : .
ExAC_cnvZ : 0.648096249745296
ExAC_delZ : -0.211307468241903
ExAC_dupZ : 1.06067237466584
ExAC_synZ : 0.594104747733075
ExAC_misZ : 0.466276305291711
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11108
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : XM_005268593
Tx_version : 2
Tx_start : 107732870
Tx_end : 107761137
Exon_count : 12
Overlapped_tx_length : 28267
Overlapped_CDS_length : 2427
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107732870
Intersect_end : 107761137
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4552Exomiser_gene_pheno_score : 0.4552
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; microphthalmia; short tibia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NACAGene_name : NACA;
LOEUF_bin : 3
GnomAD_pLI : 4.7299e-05
ExAC_pLI : 2.0338e-02
HI : .
TS : .
DDD_HI_percent : 13.41
ACMG : .
ExAC_cnvZ : 0.887824107844423
ExAC_delZ : 0.455675322914286
ExAC_dupZ : 0.757373369747492
ExAC_synZ : -1.12876954269789
ExAC_misZ : -0.193588763941153
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4666
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001365896
Tx_version : 1
Tx_start : 56712426
Tx_end : 56725299
Exon_count : 9
Overlapped_tx_length : 12873
Overlapped_CDS_length : 6237
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56712426
Intersect_end : 56725299
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4473Exomiser_gene_pheno_score : 0.4473
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal bone mineralization
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SARNPGene_name : SARNP;
LOEUF_bin : 0
GnomAD_pLI : 9.9574e-01
ExAC_pLI : 9.8907e-01
HI : .
TS : .
DDD_HI_percent : 12.95
ACMG : .
ExAC_cnvZ : 1.29610593009206
ExAC_delZ : 0.84924851374516
ExAC_dupZ : 1.09814540075417
ExAC_synZ : 0.0972669153041625
ExAC_misZ : 0.991461872302329
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84324
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_033082
Tx_version : 4
Tx_start : 55757269
Tx_end : 55817724
Exon_count : 11
Overlapped_tx_length : 60455
Overlapped_CDS_length : 633
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55757269
Intersect_end : 55817724
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4077Exomiser_gene_pheno_score : 0.4077
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MLECGene_name : MLEC;
LOEUF_bin : 2
GnomAD_pLI : 6.0716e-01
ExAC_pLI : 4.7092e-01
HI : .
TS : .
DDD_HI_percent : 20.42
ACMG : .
ExAC_cnvZ : 1.17786497008338
ExAC_delZ : 0.87905277003469
ExAC_dupZ : 1.17600033516434
ExAC_synZ : 1.07062118835982
ExAC_misZ : 3.16612678511578
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9761
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_014730
Tx_version : 4
Tx_start : 120687148
Tx_end : 120701859
Exon_count : 5
Overlapped_tx_length : 14711
Overlapped_CDS_length : 879
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120687148
Intersect_end : 120701859
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4267Exomiser_gene_pheno_score : 0.4267
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NFE2Gene_name : NFE2;
LOEUF_bin : 2
GnomAD_pLI : 6.6693e-01
ExAC_pLI : 6.8891e-01
HI : .
TS : .
DDD_HI_percent : 32.6
ACMG : .
ExAC_cnvZ : 0.706124397647518
ExAC_delZ : 0.283882041532514
ExAC_dupZ : 0.625172341042784
ExAC_synZ : -0.385416103089614
ExAC_misZ : 1.63540225670932
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4778
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001136023
Tx_version : 3
Tx_start : 54292110
Tx_end : 54301015
Exon_count : 3
Overlapped_tx_length : 8905
Overlapped_CDS_length : 1122
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54292110
Intersect_end : 54301015
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4258Exomiser_gene_pheno_score : 0.4258
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone ossification
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MSI1Gene_name : MSI1;
LOEUF_bin : 0
GnomAD_pLI : 9.9357e-01
ExAC_pLI : 9.9715e-01
HI : .
TS : .
DDD_HI_percent : 34.72
ACMG : .
ExAC_cnvZ : 0.483285467504029
ExAC_delZ : 0.84764370443777
ExAC_dupZ : 0.16632841324523
ExAC_synZ : 0.411402096561841
ExAC_misZ : 3.01692226149236
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4440
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_011538361
Tx_version : 4
Tx_start : 120339661
Tx_end : 120369164
Exon_count : 15
Overlapped_tx_length : 29503
Overlapped_CDS_length : 1089
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120339661
Intersect_end : 120369164
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4050Exomiser_gene_pheno_score : 0.4050
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal neurocranium morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIPGene_name : MIP;
LOEUF_bin : 4
GnomAD_pLI : 3.0956e-02
ExAC_pLI : 6.7791e-01
HI : .
TS : .
DDD_HI_percent : 27.11
ACMG : .
ExAC_cnvZ : 0.659956465505639
ExAC_delZ : 0.525594641709002
ExAC_dupZ : 0.479517348484869
ExAC_synZ : 0.549274498672663
ExAC_misZ : 1.27126041275793
GenCC_disease : cataract 15 multiple types; cerulean cataract; early-onset lamellar cataract; early-onset nuclear cataract; early-onset posterior polar cataract; early-onset sutural cataract; total early-onset cataract
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10802646; 10937580; 11001937; 16564824; 17893667[PMID]; 20361015[PMID]_24405844[PMID]; 21245956[PMID]_21647270[PMID]_24384146[PMID]; 21850180[PMID]; 23116563[PMID]; 23508780; 24405844; 25803033; 25803033[PMID]; 27456987; 36734406; 8563764
NCBI_gene_ID : 727764
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_012064
Tx_version : 4
Tx_start : 56449501
Tx_end : 56454657
Exon_count : 4
Overlapped_tx_length : 5156
Overlapped_CDS_length : 792
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56449501
Intersect_end : 56454657
154050; OMIM_ID : 154050;
OMIM_phenotype : Cataract 15, multiple types, 615274 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
9P_snvindel_nb : 9
P_snvindel_phen : Cataract_15_multiple_types; Developmental_cataract; MIP-related_condition; Persistent_hyperplastic_primary_vitreous
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NAV3Gene_name : NAV3;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 20.95
ACMG : .
ExAC_cnvZ : 1.66861247456997
ExAC_delZ : 1.00648195917251
ExAC_dupZ : 1.70987050221874
ExAC_synZ : -1.3848688190077
ExAC_misZ : 0.345681334204511
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 89795
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_001024383
Tx_version : 2
Tx_start : 77830893
Tx_end : 78213010
Exon_count : 40
Overlapped_tx_length : 382117
Overlapped_CDS_length : 7158
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 77830893
Intersect_end : 78213010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4000Exomiser_gene_pheno_score : 0.4000
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC4A8Gene_name : SLC4A8;
LOEUF_bin : 0
GnomAD_pLI : 9.9849e-01
ExAC_pLI : 9.9987e-01
HI : .
TS : .
DDD_HI_percent : 29.29
ACMG : .
ExAC_cnvZ : 1.81475038330455
ExAC_delZ : 1.17187531009482
ExAC_dupZ : 1.83044712798202
ExAC_synZ : -0.154140163825695
ExAC_misZ : 3.76699032819653
GenCC_disease : schizophrenia
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 23042115
NCBI_gene_ID : 9498
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_011539010
Tx_version : 2
Tx_start : 51424830
Tx_end : 51515763
Exon_count : 26
Overlapped_tx_length : 90933
Overlapped_CDS_length : 3336
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51424830
Intersect_end : 51515763
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4000Exomiser_gene_pheno_score : 0.4000
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANKRD13AGene_name : ANKRD13A;
LOEUF_bin : 2
GnomAD_pLI : 2.0646e-04
ExAC_pLI : 3.5062e-01
HI : .
TS : .
DDD_HI_percent : 39.94
ACMG : .
ExAC_cnvZ : 1.24054897764707
ExAC_delZ : 0.583864762776861
ExAC_dupZ : 1.31708639721321
ExAC_synZ : 0.401897804036829
ExAC_misZ : 0.80003400618294
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 88455
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_005253980
Tx_version : 4
Tx_start : 109999429
Tx_end : 110039763
Exon_count : 15
Overlapped_tx_length : 40334
Overlapped_CDS_length : 1776
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109999429
Intersect_end : 110039763
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4213Exomiser_gene_pheno_score : 0.4213
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; vertebral fusion
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OS9Gene_name : OS9;
LOEUF_bin : 4
GnomAD_pLI : 2.8559e-09
ExAC_pLI : 1.1315e-07
HI : .
TS : .
DDD_HI_percent : 40.76
ACMG : .
ExAC_cnvZ : 0.11167527266014
ExAC_delZ : 0.88767838988649
ExAC_dupZ : -0.293645791008266
ExAC_synZ : 0.766975465607729
ExAC_misZ : 0.969493795160673
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10956
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3-q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_001410980
Tx_version : 1
Tx_start : 57694131
Tx_end : 57721557
Exon_count : 15
Overlapped_tx_length : 27426
Overlapped_CDS_length : 2007
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57694131
Intersect_end : 57721557
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4463Exomiser_gene_pheno_score : 0.4463
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; vertebral fusion
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RIC8BGene_name : RIC8B;
LOEUF_bin : 0
GnomAD_pLI : 9.9892e-01
ExAC_pLI : 9.9749e-01
HI : .
TS : .
DDD_HI_percent : 7.79
ACMG : .
ExAC_cnvZ : 0.740741373627318
ExAC_delZ : 0.608129148667961
ExAC_dupZ : 0.531272607490679
ExAC_synZ : 0.97233797680883
ExAC_misZ : 2.18915336596037
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55188
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001330145
Tx_version : 2
Tx_start : 106774681
Tx_end : 106889316
Exon_count : 10
Overlapped_tx_length : 114635
Overlapped_CDS_length : 1683
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106774681
Intersect_end : 106889316
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3994Exomiser_gene_pheno_score : 0.3994
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; corneal opacity
Fish_pheno_evidence : Craniosynostosis; head circular, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPL6Gene_name : RPL6;
LOEUF_bin : 0
GnomAD_pLI : 9.9326e-01
ExAC_pLI : 9.8829e-01
HI : .
TS : .
DDD_HI_percent : 53.34
ACMG : .
ExAC_cnvZ : 0.853065915351157
ExAC_delZ : 0.389780349243269
ExAC_dupZ : 0.745040935846092
ExAC_synZ : 0.783626747743737
ExAC_misZ : 2.4167868364062
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6128
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : XM_047429302
Tx_version : 1
Tx_start : 112405180
Tx_end : 112418835
Exon_count : 10
Overlapped_tx_length : 13655
Overlapped_CDS_length : 867
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112405180
Intersect_end : 112418835
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3994Exomiser_gene_pheno_score : 0.3994
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head circular, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATF1Gene_name : ATF1;
LOEUF_bin : 2
GnomAD_pLI : 6.3426e-01
ExAC_pLI : 6.6383e-01
HI : .
TS : .
DDD_HI_percent : 19.6
ACMG : .
ExAC_cnvZ : 1.02155070546731
ExAC_delZ : 0.36295311093183
ExAC_dupZ : 1.1652475912027
ExAC_synZ : -0.592478761737635
ExAC_misZ : 0.775133525194193
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 466
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047428878
Tx_version : 1
Tx_start : 50791536
Tx_end : 50821162
Exon_count : 6
Overlapped_tx_length : 29626
Overlapped_CDS_length : 918
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50791536
Intersect_end : 50821162
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4212Exomiser_gene_pheno_score : 0.4212
Human_pheno_evidence : Adducted thumb; Brachydactyly; Hirschsprung disease
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UBE2NGene_name : UBE2N;
LOEUF_bin : 2
GnomAD_pLI : 8.8156e-01
ExAC_pLI : 7.8772e-01
HI : .
TS : .
DDD_HI_percent : 1.56
ACMG : .
ExAC_cnvZ : 0.436854289180072
ExAC_delZ : 0.295419193824782
ExAC_dupZ : 0.287816169923455
ExAC_synZ : 0.454977494271898
ExAC_misZ : 3.1920362407798
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7334
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_003348
Tx_version : 4
Tx_start : 93405683
Tx_end : 93441947
Exon_count : 4
Overlapped_tx_length : 36264
Overlapped_CDS_length : 459
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93405683
Intersect_end : 93441947
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4165Exomiser_gene_pheno_score : 0.4165
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal joint morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC48A1Gene_name : SLC48A1;
LOEUF_bin : 3
GnomAD_pLI : 7.3420e-01
ExAC_pLI : 4.3751e-01
HI : .
TS : .
DDD_HI_percent : 44.96
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.707268915077168
ExAC_misZ : 0.904855128088624
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55652
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_047429134
Tx_version : 1
Tx_start : 47753933
Tx_end : 47782751
Exon_count : 6
Overlapped_tx_length : 28818
Overlapped_CDS_length : 555
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47753933
Intersect_end : 47782751
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4267Exomiser_gene_pheno_score : 0.4267
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAB35Gene_name : RAB35;
LOEUF_bin : 0
GnomAD_pLI : 9.7845e-01
ExAC_pLI : 9.7978e-01
HI : .
TS : .
DDD_HI_percent : 29.36
ACMG : .
ExAC_cnvZ : 0.443326569320609
ExAC_delZ : 0.291794873608758
ExAC_dupZ : 0.312084324130249
ExAC_synZ : 0.131189236362948
ExAC_misZ : 3.07755773197893
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11021
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_006861
Tx_version : 7
Tx_start : 120095098
Tx_end : 120116753
Exon_count : 6
Overlapped_tx_length : 21655
Overlapped_CDS_length : 606
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120095098
Intersect_end : 120116753
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3872Exomiser_gene_pheno_score : 0.3872
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANKRD52Gene_name : ANKRD52;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 32.09
ACMG : .
ExAC_cnvZ : 1.21566863620043
ExAC_delZ : 1.05038834946105
ExAC_dupZ : 0.981781281466233
ExAC_synZ : 0.274519989307373
ExAC_misZ : 4.68529592258787
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283373
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_173595
Tx_version : 4
Tx_start : 56237806
Tx_end : 56258384
Exon_count : 28
Overlapped_tx_length : 20578
Overlapped_CDS_length : 3231
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56237806
Intersect_end : 56258384
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3872Exomiser_gene_pheno_score : 0.3872
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; anophthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAB3IPGene_name : RAB3IP;
LOEUF_bin : 4
GnomAD_pLI : 1.6698e-08
ExAC_pLI : 1.6753e-02
HI : .
TS : .
DDD_HI_percent : 22.28
ACMG : .
ExAC_cnvZ : 0.400061048263209
ExAC_delZ : -0.193364433959169
ExAC_dupZ : 0.656299210953793
ExAC_synZ : -0.492594893410262
ExAC_misZ : -0.35653761399856
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 117177
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : XM_006719226
Tx_version : 4
Tx_start : 69738263
Tx_end : 69823204
Exon_count : 11
Overlapped_tx_length : 84941
Overlapped_CDS_length : 1533
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69738263
Intersect_end : 69823204
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4327Exomiser_gene_pheno_score : 0.4327
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PEBP1Gene_name : PEBP1;
LOEUF_bin : 4
GnomAD_pLI : 9.1670e-02
ExAC_pLI : 1.4886e-01
HI : .
TS : .
DDD_HI_percent : 40.61
ACMG : .
ExAC_cnvZ : 0.813616537821576
ExAC_delZ : 0.337277740360194
ExAC_dupZ : 0.729578773729111
ExAC_synZ : -0.342164655268071
ExAC_misZ : 0.3847845329974
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5037
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_002567
Tx_version : 4
Tx_start : 118136123
Tx_end : 118145584
Exon_count : 4
Overlapped_tx_length : 9461
Overlapped_CDS_length : 564
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118136123
Intersect_end : 118145584
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4319Exomiser_gene_pheno_score : 0.4319
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC92Gene_name : CCDC92;
LOEUF_bin : 3
GnomAD_pLI : 2.9985e-01
ExAC_pLI : 3.6885e-01
HI : .
TS : .
DDD_HI_percent : 68.78
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.214383604989535
ExAC_misZ : 0.863475801773479
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80212
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001304957
Tx_version : 2
Tx_start : 123935625
Tx_end : 123972831
Exon_count : 5
Overlapped_tx_length : 37206
Overlapped_CDS_length : 996
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123935625
Intersect_end : 123972831
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LETMD1Gene_name : LETMD1;
LOEUF_bin : 3
GnomAD_pLI : 4.8505e-02
ExAC_pLI : 7.9386e-01
HI : .
TS : .
DDD_HI_percent : 51.09
ACMG : .
ExAC_cnvZ : -0.100554658951515
ExAC_delZ : -0.0622232043051011
ExAC_dupZ : -0.147185857696405
ExAC_synZ : -1.43528982046336
ExAC_misZ : 0.602017842531281
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25875
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001243689
Tx_version : 2
Tx_start : 51048326
Tx_end : 51060424
Exon_count : 9
Overlapped_tx_length : 12098
Overlapped_CDS_length : 1122
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51048326
Intersect_end : 51060424
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NTN4Gene_name : NTN4;
LOEUF_bin : 1
GnomAD_pLI : 9.1585e-01
ExAC_pLI : 9.9443e-01
HI : .
TS : .
DDD_HI_percent : 26.83
ACMG : .
ExAC_cnvZ : 0.707254127387719
ExAC_delZ : 0.851030672615135
ExAC_dupZ : 0.446078952248777
ExAC_synZ : -0.10226898345785
ExAC_misZ : 1.40364469306428
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8079
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_021229
Tx_version : 4
Tx_start : 95657806
Tx_end : 95790764
Exon_count : 10
Overlapped_tx_length : 132958
Overlapped_CDS_length : 1887
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95657806
Intersect_end : 95790764
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3889Exomiser_gene_pheno_score : 0.3889
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye physiology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPRYD3Gene_name : SPRYD3;
LOEUF_bin : 2
GnomAD_pLI : 1.4961e-01
ExAC_pLI : 9.4694e-01
HI : .
TS : .
DDD_HI_percent : 32.35
ACMG : .
ExAC_cnvZ : 0.337657137932709
ExAC_delZ : 0.700754113194752
ExAC_dupZ : 0.0412162664911047
ExAC_synZ : 0.26233923505515
ExAC_misZ : 3.00007504095374
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84926
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_032840
Tx_version : 3
Tx_start : 53064315
Tx_end : 53079390
Exon_count : 11
Overlapped_tx_length : 15075
Overlapped_CDS_length : 1329
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53064315
Intersect_end : 53079390
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4013Exomiser_gene_pheno_score : 0.4013
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRKAB1Gene_name : PRKAB1;
LOEUF_bin : 4
GnomAD_pLI : 5.2573e-03
ExAC_pLI : 5.1879e-02
HI : .
TS : .
DDD_HI_percent : 30.01
ACMG : .
ExAC_cnvZ : 0.835580549439664
ExAC_delZ : 0.688613237731649
ExAC_dupZ : 0.62374233990552
ExAC_synZ : 0.777327174098465
ExAC_misZ : 0.906170394712761
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5564
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : XM_005253909
Tx_version : 2
Tx_start : 119667951
Tx_end : 119681619
Exon_count : 8
Overlapped_tx_length : 13668
Overlapped_CDS_length : 813
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119667951
Intersect_end : 119681619
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4267Exomiser_gene_pheno_score : 0.4267
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MDM1Gene_name : MDM1;
LOEUF_bin : 4
GnomAD_pLI : 4.7231e-12
ExAC_pLI : 5.7829e-08
HI : .
TS : .
DDD_HI_percent : 63.86
ACMG : .
ExAC_cnvZ : 0.386919367734289
ExAC_delZ : 0.00434039285028253
ExAC_dupZ : 0.506541443110095
ExAC_synZ : -0.508675471280761
ExAC_misZ : -1.14327518717422
GenCC_disease : schizophrenia
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 56890
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_001354969
Tx_version : 2
Tx_start : 68294565
Tx_end : 68332362
Exon_count : 15
Overlapped_tx_length : 37797
Overlapped_CDS_length : 2175
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68294565
Intersect_end : 68332362
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4207Exomiser_gene_pheno_score : 0.4207
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal cone electrophysiology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CERS5Gene_name : CERS5;
LOEUF_bin : 5
GnomAD_pLI : 6.4962e-09
ExAC_pLI : 1.3107e-05
HI : .
TS : .
DDD_HI_percent : 37.54
ACMG : .
ExAC_cnvZ : 0.979691956576779
ExAC_delZ : 1.38665625548894
ExAC_dupZ : 0.570935691504473
ExAC_synZ : 1.513980315882
ExAC_misZ : 1.20885723311976
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 91012
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_005269220
Tx_version : 3
Tx_start : 50129288
Tx_end : 50167369
Exon_count : 10
Overlapped_tx_length : 38081
Overlapped_CDS_length : 1230
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50129288
Intersect_end : 50167369
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4327Exomiser_gene_pheno_score : 0.4327
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FOXN4Gene_name : FOXN4;
LOEUF_bin : 1
GnomAD_pLI : 8.6055e-01
ExAC_pLI : 1.3306e-01
HI : .
TS : .
DDD_HI_percent : 57.39
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.0584374882883324
ExAC_misZ : 0.100463908572468
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121643
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011537922
Tx_version : 3
Tx_start : 109277977
Tx_end : 109309284
Exon_count : 10
Overlapped_tx_length : 31307
Overlapped_CDS_length : 1557
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109277977
Intersect_end : 109309284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3767Exomiser_gene_pheno_score : 0.3767
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina neuronal layer morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SP1Gene_name : SP1;
LOEUF_bin : 0
GnomAD_pLI : 9.9997e-01
ExAC_pLI : 9.9764e-01
HI : .
TS : .
DDD_HI_percent : 0.82
ACMG : .
ExAC_cnvZ : 0.528079902013746
ExAC_delZ : 0.394398097760484
ExAC_dupZ : 0.366644295592429
ExAC_synZ : -2.50900068021098
ExAC_misZ : 0.799661392893579
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6667
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_138473
Tx_version : 3
Tx_start : 53380175
Tx_end : 53416446
Exon_count : 6
Overlapped_tx_length : 36271
Overlapped_CDS_length : 2358
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53380175
Intersect_end : 53416446
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3688Exomiser_gene_pheno_score : 0.3688
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; anophthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CNPY2Gene_name : CNPY2;
LOEUF_bin : 5
GnomAD_pLI : 2.9232e-03
ExAC_pLI : 3.0095e-02
HI : .
TS : .
DDD_HI_percent : 19.06
ACMG : .
ExAC_cnvZ : 0.116500426013103
ExAC_delZ : -0.695034568928692
ExAC_dupZ : 0.627953883887315
ExAC_synZ : 0.795857236881887
ExAC_misZ : 0.87195508857083
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10330
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_014255
Tx_version : 7
Tx_start : 56309843
Tx_end : 56315988
Exon_count : 6
Overlapped_tx_length : 6145
Overlapped_CDS_length : 549
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56309843
Intersect_end : 56315988
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4328Exomiser_gene_pheno_score : 0.4328
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal joint morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WSB2Gene_name : WSB2;
LOEUF_bin : 1
GnomAD_pLI : 9.2938e-01
ExAC_pLI : 5.0322e-01
HI : .
TS : .
DDD_HI_percent : 21.22
ACMG : .
ExAC_cnvZ : 0.120476606006005
ExAC_delZ : 0.921684514631708
ExAC_dupZ : -0.303421531600562
ExAC_synZ : -0.765705861965643
ExAC_misZ : 2.2136432325395
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55884
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_001278557
Tx_version : 1
Tx_start : 118032686
Tx_end : 118062174
Exon_count : 9
Overlapped_tx_length : 29488
Overlapped_CDS_length : 1266
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118032686
Intersect_end : 118062174
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3804Exomiser_gene_pheno_score : 0.3804
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal tooth morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SRRM4Gene_name : SRRM4;
LOEUF_bin : 1
GnomAD_pLI : 4.6456e-01
ExAC_pLI : 4.1175e-01
HI : .
TS : .
DDD_HI_percent : 40.85
ACMG : .
ExAC_cnvZ : 0.0445111619136791
ExAC_delZ : 0.398590229680274
ExAC_dupZ : -0.171656946051384
ExAC_synZ : -0.161468392112533
ExAC_misZ : 0.844529038971192
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84530
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_194286
Tx_version : 4
Tx_start : 118981540
Tx_end : 119163051
Exon_count : 13
Overlapped_tx_length : 181511
Overlapped_CDS_length : 1836
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118981540
Intersect_end : 119163051
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3776Exomiser_gene_pheno_score : 0.3776
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal crista ampullaris morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPPL3Gene_name : SPPL3;
LOEUF_bin : 0
GnomAD_pLI : 9.9656e-01
ExAC_pLI : 9.0779e-01
HI : .
TS : .
DDD_HI_percent : 15.17
ACMG : .
ExAC_cnvZ : 0.171935192534646
ExAC_delZ : 0.00120728308462356
ExAC_dupZ : 0.185252828195452
ExAC_synZ : -0.569889453242568
ExAC_misZ : 3.30628515860837
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121665
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_139015
Tx_version : 5
Tx_start : 120762509
Tx_end : 120904358
Exon_count : 11
Overlapped_tx_length : 141849
Overlapped_CDS_length : 1155
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120762509
Intersect_end : 120904358
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3644Exomiser_gene_pheno_score : 0.3644
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; microphthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CAND1Gene_name : CAND1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9993e-01
HI : .
TS : .
DDD_HI_percent : 18.18
ACMG : .
ExAC_cnvZ : 0.551262675816201
ExAC_delZ : 0.95540068679627
ExAC_dupZ : 0.169221154323347
ExAC_synZ : -1.42859875172419
ExAC_misZ : 4.14995912478083
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55832
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3-q15
Location2 : 5'UTR-3'UTR
Tx : NM_018448
Tx_version : 5
Tx_start : 67269357
Tx_end : 67319953
Exon_count : 15
Overlapped_tx_length : 50596
Overlapped_CDS_length : 3693
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67269357
Intersect_end : 67319953
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3644Exomiser_gene_pheno_score : 0.3644
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; microphthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:67262967-67357107
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RFC5Gene_name : RFC5;
LOEUF_bin : 4
GnomAD_pLI : 5.0356e-04
ExAC_pLI : 1.4710e-02
HI : .
TS : .
DDD_HI_percent : 8.48
ACMG : .
ExAC_cnvZ : -0.0313964345635402
ExAC_delZ : 0.941527011151977
ExAC_dupZ : -0.498899025188632
ExAC_synZ : 0.220683115235961
ExAC_misZ : 1.38301687047701
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5985
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_007370
Tx_version : 7
Tx_start : 118016702
Tx_end : 118032234
Exon_count : 11
Overlapped_tx_length : 15532
Overlapped_CDS_length : 1023
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118016702
Intersect_end : 118032234
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4152Exomiser_gene_pheno_score : 0.4152
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head pointed, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARF3Gene_name : ARF3;
LOEUF_bin : 3
GnomAD_pLI : 3.5273e-01
ExAC_pLI : 6.2273e-01
HI : .
TS : .
DDD_HI_percent : 7.96
ACMG : .
ExAC_cnvZ : 0.820700913463533
ExAC_delZ : 0.694414322122581
ExAC_dupZ : 0.730813824258431
ExAC_synZ : 0.123313141713274
ExAC_misZ : 3.088726881946
GenCC_disease : complex neurodevelopmental disorder
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : .
NCBI_gene_ID : 377
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001412914
Tx_version : 1
Tx_start : 48935722
Tx_end : 48957487
Exon_count : 6
Overlapped_tx_length : 21765
Overlapped_CDS_length : 546
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48935722
Intersect_end : 48957487
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4060Exomiser_gene_pheno_score : 0.4060
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : Abnormality_of_the_dentition; Atrophy/Degeneration_affecting_the_central_nervous_system; Autism; Bifid_uvula; Clinodactyly; Delayed_early-childhood_social_milestone_development; Delayed_speech_and_language_development; Dystonic_disorder; Global_developmental_delay; Heart,_malformation_of; Hypotonia; Intellectual_disability; Kyphosis; Long_ear; Long_neck; Microcephaly; Motor_delay; Neurodevelopmental_delay; Pectus_excavatum; Scoliosis; Seizure; Self-injurious_behavior
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNRPFGene_name : SNRPF;
LOEUF_bin : 2
GnomAD_pLI : 7.9498e-01
ExAC_pLI : 7.3466e-01
HI : .
TS : .
DDD_HI_percent : 8.96
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.280643577833929
ExAC_misZ : 1.62061394582131
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6636
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_003095
Tx_version : 5
Tx_start : 95858951
Tx_end : 95866140
Exon_count : 4
Overlapped_tx_length : 7189
Overlapped_CDS_length : 261
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95858951
Intersect_end : 95866140
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3950Exomiser_gene_pheno_score : 0.3950
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head flat, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SUDS3Gene_name : SUDS3;
LOEUF_bin : 3
GnomAD_pLI : 4.5448e-03
ExAC_pLI : 7.5961e-03
HI : .
TS : .
DDD_HI_percent : 22.11
ACMG : .
ExAC_cnvZ : 0.507983669649188
ExAC_delZ : 0.0905927321014906
ExAC_dupZ : 0.588598432568505
ExAC_synZ : 0.522251635203125
ExAC_misZ : 1.61376693583277
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64426
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_022491
Tx_version : 3
Tx_start : 118376554
Tx_end : 118418033
Exon_count : 12
Overlapped_tx_length : 41479
Overlapped_CDS_length : 987
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118376554
Intersect_end : 118418033
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3994Exomiser_gene_pheno_score : 0.3994
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head circular, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TDGGene_name : TDG;
LOEUF_bin : 3
GnomAD_pLI : 5.6268e-04
ExAC_pLI : 9.2235e-04
HI : .
TS : .
DDD_HI_percent : 23.52
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.08780126319124
ExAC_misZ : 1.74840263651351
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6996
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_003211
Tx_version : 6
Tx_start : 103965871
Tx_end : 103988874
Exon_count : 10
Overlapped_tx_length : 23003
Overlapped_CDS_length : 1233
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103965871
Intersect_end : 103988874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3988Exomiser_gene_pheno_score : 0.3988
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal limb development
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ELK3Gene_name : ELK3;
LOEUF_bin : 3
GnomAD_pLI : 8.3508e-02
ExAC_pLI : 1.0174e-01
HI : .
TS : .
DDD_HI_percent : 14.14
ACMG : .
ExAC_cnvZ : 0.793947089939442
ExAC_delZ : 0.34099265795374
ExAC_dupZ : 0.701897359606892
ExAC_synZ : -0.283814333687686
ExAC_misZ : 0.562190245816335
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 2004
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001413760
Tx_version : 1
Tx_start : 96194374
Tx_end : 96269824
Exon_count : 6
Overlapped_tx_length : 75450
Overlapped_CDS_length : 1224
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96194374
Intersect_end : 96269824
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3984Exomiser_gene_pheno_score : 0.3984
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SCAF11Gene_name : SCAF11;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9968e-01
HI : .
TS : .
DDD_HI_percent : 49.39
ACMG : .
ExAC_cnvZ : 1.3353972142302
ExAC_delZ : 0.916680082741035
ExAC_dupZ : 1.10452194779896
ExAC_synZ : -0.679802254310739
ExAC_misZ : -1.43182907466117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9169
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_005269230
Tx_version : 3
Tx_start : 45919130
Tx_end : 45992059
Exon_count : 15
Overlapped_tx_length : 72929
Overlapped_CDS_length : 4584
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45919130
Intersect_end : 45992059
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3568Exomiser_gene_pheno_score : 0.3568
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal bone structure
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LUMGene_name : LUM;
LOEUF_bin : 5
GnomAD_pLI : 7.6960e-02
ExAC_pLI : 1.0192e-01
HI : .
TS : .
DDD_HI_percent : 10.77
ACMG : .
ExAC_cnvZ : 0.247229597350222
ExAC_delZ : 0.441812695427938
ExAC_dupZ : -0.00358396521753357
ExAC_synZ : -0.817517237647838
ExAC_misZ : 0.991894909236812
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4060
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_002345
Tx_version : 4
Tx_start : 91102628
Tx_end : 91111494
Exon_count : 3
Overlapped_tx_length : 8866
Overlapped_CDS_length : 1017
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91102628
Intersect_end : 91111494
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4212Exomiser_gene_pheno_score : 0.4212
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased corneal light-scattering
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
COPZ1Gene_name : COPZ1;
LOEUF_bin : 1
GnomAD_pLI : 9.4896e-01
ExAC_pLI : 8.9070e-01
HI : .
TS : .
DDD_HI_percent : 12.75
ACMG : .
ExAC_cnvZ : 0.546927128365517
ExAC_delZ : 1.16144600608896
ExAC_dupZ : 0.109669759613809
ExAC_synZ : 0.190073004335522
ExAC_misZ : 0.88674570280487
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22818
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001271736
Tx_version : 2
Tx_start : 54325130
Tx_end : 54351846
Exon_count : 9
Overlapped_tx_length : 26716
Overlapped_CDS_length : 558
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54325130
Intersect_end : 54351846
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3678Exomiser_gene_pheno_score : 0.3678
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head decreased width, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TSPAN8Gene_name : TSPAN8;
LOEUF_bin : 4
GnomAD_pLI : 5.5131e-03
ExAC_pLI : 8.6947e-03
HI : .
TS : .
DDD_HI_percent : 73.73
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.113741742397146
ExAC_misZ : -0.325544420142966
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7103
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_004616
Tx_version : 3
Tx_start : 71125095
Tx_end : 71157999
Exon_count : 9
Overlapped_tx_length : 32904
Overlapped_CDS_length : 714
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71125095
Intersect_end : 71157999
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4007Exomiser_gene_pheno_score : 0.4007
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPFIA2Gene_name : PPFIA2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9998e-01
HI : .
TS : .
DDD_HI_percent : 16.83
ACMG : .
ExAC_cnvZ : -0.198531834395135
ExAC_delZ : -0.980850212524021
ExAC_dupZ : 0.337560851333821
ExAC_synZ : -1.33549315893712
ExAC_misZ : 2.5173351523216
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8499
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : XM_047429770
Tx_version : 1
Tx_start : 81261951
Tx_end : 81759350
Exon_count : 33
Overlapped_tx_length : 497399
Overlapped_CDS_length : 3783
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81261951
Intersect_end : 81759350
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3473Exomiser_gene_pheno_score : 0.3473
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina vasculature morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FBXO21Gene_name : FBXO21;
LOEUF_bin : 1
GnomAD_pLI : 9.7537e-01
ExAC_pLI : 9.9063e-01
HI : .
TS : .
DDD_HI_percent : 37.47
ACMG : .
ExAC_cnvZ : 1.15624445926491
ExAC_delZ : 1.03599581103468
ExAC_dupZ : 0.872204491362497
ExAC_synZ : 1.08118057018612
ExAC_misZ : 3.08336849501525
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23014
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : NM_033624
Tx_version : 3
Tx_start : 117141990
Tx_end : 117190470
Exon_count : 12
Overlapped_tx_length : 48480
Overlapped_CDS_length : 1887
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117141990
Intersect_end : 117190470
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3644Exomiser_gene_pheno_score : 0.3644
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal cornea morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAM216AGene_name : FAM216A;
LOEUF_bin : 3
GnomAD_pLI : 3.3456e-02
ExAC_pLI : 1.1163e-03
HI : .
TS : .
DDD_HI_percent : 54.7
ACMG : .
ExAC_cnvZ : -0.458376406519496
ExAC_delZ : -0.722934974489254
ExAC_dupZ : -0.286618578052328
ExAC_synZ : 0.236811302974648
ExAC_misZ : -0.387522271688355
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29902
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_013300
Tx_version : 3
Tx_start : 110468844
Tx_end : 110490385
Exon_count : 7
Overlapped_tx_length : 21541
Overlapped_CDS_length : 822
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110468844
Intersect_end : 110490385
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3872Exomiser_gene_pheno_score : 0.3872
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KCNH3Gene_name : KCNH3;
LOEUF_bin : 0
GnomAD_pLI : 9.9919e-01
ExAC_pLI : 9.9989e-01
HI : .
TS : .
DDD_HI_percent : 36.24
ACMG : .
ExAC_cnvZ : 0.946927741360391
ExAC_delZ : 1.08463842994028
ExAC_dupZ : 0.671212613167244
ExAC_synZ : 1.63679641138092
ExAC_misZ : 5.30116676497632
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23416
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_011538085
Tx_version : 3
Tx_start : 49539029
Tx_end : 49558337
Exon_count : 15
Overlapped_tx_length : 19308
Overlapped_CDS_length : 3285
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49539029
Intersect_end : 49558337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3482Exomiser_gene_pheno_score : 0.3482
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCNT1Gene_name : CCNT1;
LOEUF_bin : 2
GnomAD_pLI : 5.1092e-02
ExAC_pLI : 9.9581e-01
HI : .
TS : .
DDD_HI_percent : 26.38
ACMG : .
ExAC_cnvZ : 0.491673067825855
ExAC_delZ : 0.900213362008298
ExAC_dupZ : 0.123253911135359
ExAC_synZ : -0.730685295118149
ExAC_misZ : 1.25388184391734
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 904
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11-q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001240
Tx_version : 4
Tx_start : 48688457
Tx_end : 48716707
Exon_count : 9
Overlapped_tx_length : 28250
Overlapped_CDS_length : 2181
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48688457
Intersect_end : 48716707
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3706Exomiser_gene_pheno_score : 0.3706
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DYNLL1Gene_name : DYNLL1;
LOEUF_bin : 4
GnomAD_pLI : 6.9830e-01
ExAC_pLI : 6.9658e-01
HI : .
TS : .
DDD_HI_percent : 2.46
ACMG : .
ExAC_cnvZ : 0.568266087783176
ExAC_delZ : 0.426356658345729
ExAC_dupZ : 0.397502199871508
ExAC_synZ : 1.13503779248953
ExAC_misZ : 2.40794311218952
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8655
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001037494
Tx_version : 2
Tx_start : 120469841
Tx_end : 120498493
Exon_count : 3
Overlapped_tx_length : 28652
Overlapped_CDS_length : 270
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120469841
Intersect_end : 120498493
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4010Exomiser_gene_pheno_score : 0.4010
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; coloboma
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ESYT1Gene_name : ESYT1;
LOEUF_bin : 3
GnomAD_pLI : 1.6707e-13
ExAC_pLI : 2.1407e-07
HI : .
TS : .
DDD_HI_percent : 47.13
ACMG : .
ExAC_cnvZ : 0.852088821722998
ExAC_delZ : 0.656814068026027
ExAC_dupZ : 0.813666383496652
ExAC_synZ : 1.30657378890547
ExAC_misZ : 0.864641739218734
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23344
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001184796
Tx_version : 2
Tx_start : 56128266
Tx_end : 56144674
Exon_count : 31
Overlapped_tx_length : 16408
Overlapped_CDS_length : 3345
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56128266
Intersect_end : 56144674
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3850Exomiser_gene_pheno_score : 0.3850
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; sclerocornea
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CITGene_name : CIT;
LOEUF_bin : 0
GnomAD_pLI : 9.9970e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 9.65
ACMG : .
ExAC_cnvZ : 1.00738639885524
ExAC_delZ : 1.1736013546943
ExAC_dupZ : 0.764781999253212
ExAC_synZ : 0.461846199204778
ExAC_misZ : 4.40981927361563
GenCC_disease : autosomal recessive primary microcephaly; microcephaly 11, primary, autosomal recessive; microcephaly 17, primary, autosomal recessive
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 27453578; 27453578[PMID]; 27453579; 27503289
NCBI_gene_ID : 11113
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : XM_011537783
Tx_version : 2
Tx_start : 119685790
Tx_end : 119877320
Exon_count : 49
Overlapped_tx_length : 191530
Overlapped_CDS_length : 6255
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119685790
Intersect_end : 119877320
605629; OMIM_ID : 605629;
OMIM_phenotype : Microcephaly 17, primary, AR, 617090 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:119685791-119877320P_loss_coord : 12:119685791-119877320
P_loss_source : morbid:CIT
P_loss_phen : Microcephaly 17, primary, AR, 617090 (3) AR
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : Inborn_genetic_diseases; Microcephaly_17,_primary,_autosomal_recessive
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACVR1BGene_name : ACVR1B;
LOEUF_bin : 0
GnomAD_pLI : 9.9969e-01
ExAC_pLI : 9.9890e-01
HI : .
TS : .
DDD_HI_percent : 11.26
ACMG : .
ExAC_cnvZ : 1.12072471010748
ExAC_delZ : 0.987999429996775
ExAC_dupZ : 0.892462374322649
ExAC_synZ : 0.505155343695842
ExAC_misZ : 3.89048456318697
GenCC_disease : malignant pancreatic neoplasm
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 91
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_020328
Tx_version : 4
Tx_start : 51951698
Tx_end : 51997078
Exon_count : 10
Overlapped_tx_length : 45380
Overlapped_CDS_length : 1641
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51951698
Intersect_end : 51997078
601300; OMIM_ID : 601300;
OMIM_phenotype : Pancreatic cancer, somatic, 260350 (3);
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:51971985-51997078P_loss_coord : 12:51971985-51997078
P_loss_source : morbid:ACVR1B
P_loss_phen : Pancreatic cancer, somatic, 260350 (3)
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CUX2Gene_name : CUX2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9966e-01
HI : .
TS : .
DDD_HI_percent : 20.94
ACMG : .
ExAC_cnvZ : 0.981901317645535
ExAC_delZ : 0.301332630690917
ExAC_dupZ : 1.14725328656308
ExAC_synZ : 1.94114415074763
ExAC_misZ : 3.62881131513778
GenCC_disease : Lennox-Gastaut syndrome; developmental and epileptic encephalopathy; developmental and epileptic encephalopathy, 67
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 23020937; 28628100; 29630738; 29630738[PMID]
NCBI_gene_ID : 23316
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11-q24.12
Location2 : 5'UTR-3'UTR
Tx : NM_015267
Tx_version : 4
Tx_start : 111034164
Tx_end : 111350554
Exon_count : 22
Overlapped_tx_length : 316390
Overlapped_CDS_length : 4461
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111034164
Intersect_end : 111350554
610648; OMIM_ID : 610648;
OMIM_phenotype : Developmental and epileptic encephalopathy 67, 618141 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.07
.RE_gene : .
12:111100004-111350554P_loss_coord : 12:111100004-111350554
P_loss_source : morbid:CUX2
P_loss_phen : Developmental and epileptic encephalopathy 67, 618141 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : CUX2-related_condition; Developmental_and_epileptic_encephalopathy,_67
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NFYBGene_name : NFYB;
LOEUF_bin : 6
GnomAD_pLI : 2.4967e-04
ExAC_pLI : 3.2738e-03
HI : .
TS : .
DDD_HI_percent : 10.79
ACMG : .
ExAC_cnvZ : 0.884206162529591
ExAC_delZ : 0.573251834994403
ExAC_dupZ : 0.881786058528512
ExAC_synZ : -0.32611140125773
ExAC_misZ : 2.12372501165172
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4801
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001414518
Tx_version : 1
Tx_start : 104117085
Tx_end : 104138210
Exon_count : 9
Overlapped_tx_length : 21125
Overlapped_CDS_length : 627
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104117085
Intersect_end : 104138210
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4219Exomiser_gene_pheno_score : 0.4219
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; bone mineralization disrupted, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LHX5Gene_name : LHX5;
LOEUF_bin : 1
GnomAD_pLI : 9.4591e-01
ExAC_pLI : 6.9582e-01
HI : .
TS : .
DDD_HI_percent : 19.23
ACMG : .
ExAC_cnvZ : 0.598274553977895
ExAC_delZ : 0.117822080750193
ExAC_dupZ : 0.582418832807439
ExAC_synZ : 3.2671313474293
ExAC_misZ : 4.12735595764288
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64211
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_022363
Tx_version : 3
Tx_start : 113462032
Tx_end : 113471871
Exon_count : 5
Overlapped_tx_length : 9839
Overlapped_CDS_length : 1209
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113462032
Intersect_end : 113471871
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3521Exomiser_gene_pheno_score : 0.3521
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal tooth morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DAZAP2Gene_name : DAZAP2;
LOEUF_bin : 3
GnomAD_pLI : 3.6369e-01
ExAC_pLI : 5.2754e-01
HI : .
TS : .
DDD_HI_percent : 26.5
ACMG : .
ExAC_cnvZ : 0.950562296809529
ExAC_delZ : 1.11381402500715
ExAC_dupZ : 0.63626957023716
ExAC_synZ : -0.433264506109168
ExAC_misZ : 1.02570775331212
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9802
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001136266
Tx_version : 2
Tx_start : 51238825
Tx_end : 51243933
Exon_count : 4
Overlapped_tx_length : 5108
Overlapped_CDS_length : 624
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51238825
Intersect_end : 51243933
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3743Exomiser_gene_pheno_score : 0.3743
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CALCOCO1Gene_name : CALCOCO1;
LOEUF_bin : 3
GnomAD_pLI : 1.2020e-06
ExAC_pLI : 1.7189e-01
HI : .
TS : .
DDD_HI_percent : 30.99
ACMG : .
ExAC_cnvZ : 0.00656090910837758
ExAC_delZ : -0.0285851465917234
ExAC_dupZ : -0.0055799836230007
ExAC_synZ : -0.429619949934641
ExAC_misZ : 0.364344949552504
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57658
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_011538601
Tx_version : 2
Tx_start : 53708516
Tx_end : 53727452
Exon_count : 16
Overlapped_tx_length : 18936
Overlapped_CDS_length : 2148
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53708516
Intersect_end : 53727452
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3808Exomiser_gene_pheno_score : 0.3808
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; cataract
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NAB2Gene_name : NAB2;
LOEUF_bin : 2
GnomAD_pLI : 5.6734e-01
ExAC_pLI : 9.8754e-01
HI : .
TS : .
DDD_HI_percent : 39.23
ACMG : .
ExAC_cnvZ : 0.900345830334386
ExAC_delZ : 0.435023173366433
ExAC_dupZ : 0.810506161322538
ExAC_synZ : -1.64774059831435
ExAC_misZ : 3.64909640132223
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4665
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_005967
Tx_version : 4
Tx_start : 57089113
Tx_end : 57095476
Exon_count : 7
Overlapped_tx_length : 6363
Overlapped_CDS_length : 1578
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57089113
Intersect_end : 57095476
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3644Exomiser_gene_pheno_score : 0.3644
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal cornea morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT80Gene_name : KRT80;
LOEUF_bin : 5
GnomAD_pLI : 3.4641e-06
ExAC_pLI : 5.4310e-05
HI : .
TS : .
DDD_HI_percent : 63.41
ACMG : .
ExAC_cnvZ : 0.3783695594494
ExAC_delZ : 0.754204279620845
ExAC_dupZ : 0.116025124594545
ExAC_synZ : -0.175585656188554
ExAC_misZ : -0.309687564288626
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144501
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_005268676
Tx_version : 4
Tx_start : 52168995
Tx_end : 52185749
Exon_count : 7
Overlapped_tx_length : 16754
Overlapped_CDS_length : 1464
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52168995
Intersect_end : 52185749
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3997Exomiser_gene_pheno_score : 0.3997
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATXN2Gene_name : ATXN2;
LOEUF_bin : 1
GnomAD_pLI : 8.5289e-01
ExAC_pLI : 9.9986e-01
HI : .
TS : .
DDD_HI_percent : 4.16
ACMG : .
ExAC_cnvZ : 1.65682542305082
ExAC_delZ : 1.20996384516475
ExAC_dupZ : 1.41321926854445
ExAC_synZ : 1.0016219221687
ExAC_misZ : 2.01107946752925
GenCC_disease : spinocerebellar ataxia type 2
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 12812977; 8896555; 9158145; NULL
NCBI_gene_ID : 6311
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : 5'UTR-3'UTR
Tx : NM_001372574
Tx_version : 1
Tx_start : 111452213
Tx_end : 111599315
Exon_count : 25
Overlapped_tx_length : 147102
Overlapped_CDS_length : 3468
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111452213
Intersect_end : 111599315
601517; OMIM_ID : 601517;
OMIM_phenotype : Spinocerebellar ataxia 2, 183090 (3) AD;
(Amyotrophic lateral sclerosis, susceptibility to, 13), 183090 (3) AD;
(Parkinson disease, late-onset, susceptibility to), 168600 (3) Multifactorial,AD;
OMIM_inheritance : AD; Multifactorial,AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBK1Gene_name : TBK1;
LOEUF_bin : 1
GnomAD_pLI : 7.5174e-02
ExAC_pLI : 9.9510e-01
HI : .
TS : .
DDD_HI_percent : 5.3
ACMG : .
ExAC_cnvZ : 0.752534147586323
ExAC_delZ : 0.628206535733443
ExAC_dupZ : 0.626845795303636
ExAC_synZ : -0.462785148532647
ExAC_misZ : 1.29426676768204
GenCC_disease : encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8; frontotemporal dementia and/or amyotrophic lateral sclerosis 4; frontotemporal dementia with motor neuron disease
GenCC_moi : AD
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 22851595; 25700176; 25803835; 25803835[PMID]; 26476236; 26513235; 26581300; 30296527
NCBI_gene_ID : 29110
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_013254
Tx_version : 4
Tx_start : 64452119
Tx_end : 64502114
Exon_count : 21
Overlapped_tx_length : 49995
Overlapped_CDS_length : 2190
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64452119
Intersect_end : 64502114
604834; OMIM_ID : 604834;
OMIM_phenotype : Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3) AD;
(Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8), 617900 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:64452120-64502114; 12:64455872-64460349; 1[...]P_loss_coord : 12:64452120-64502114; 12:64455872-64460349; 12:64474231-64501381; 12:64481823-64486037
P_loss_source : dbVar:nssv16207686; dbVar:nssv17971276; dbVar:nssv18790775; morbid:TBK1
P_loss_phen : Frontotemporal dementia and; or amyotrophic lateral sclerosis 4, 616439 (3) AD; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8, 617900 (3) AD
P_loss_hpo : .
37P_snvindel_nb : 37
P_snvindel_phen : Amyotrophic_lateral_sclerosis; Encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_8; Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4; Herpes_simplex_encephalitis,_susceptibility_to,_1; Motor_neuron_disease; Primary_open_angle_glaucoma; TBK1-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
STAT6Gene_name : STAT6;
LOEUF_bin : 1
GnomAD_pLI : 9.8849e-01
ExAC_pLI : 1.0077e-01
HI : .
TS : .
DDD_HI_percent : 9.7
ACMG : .
ExAC_cnvZ : 1.17974000489712
ExAC_delZ : 0.49236703146494
ExAC_dupZ : 1.30689916463321
ExAC_synZ : -0.731876459396137
ExAC_misZ : 2.35301689627279
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6778
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001178078
Tx_version : 2
Tx_start : 57095407
Tx_end : 57111362
Exon_count : 22
Overlapped_tx_length : 15955
Overlapped_CDS_length : 2544
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57095407
Intersect_end : 57111362
601512; OMIM_ID : 601512;
OMIM_phenotype : Hyper-IgE syndrome 6, AD, with recurrent infections, 620532 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:57099996-57111362P_loss_coord : 12:57099996-57111362
P_loss_source : morbid:STAT6
P_loss_phen : Hyper-IgE syndrome 6, AD, with recurrent infections, 620532 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
STAT2Gene_name : STAT2;
LOEUF_bin : 1
GnomAD_pLI : 9.3065e-01
ExAC_pLI : 4.1095e-02
HI : .
TS : .
DDD_HI_percent : 53.02
ACMG : .
ExAC_cnvZ : -1.79468085213736
ExAC_delZ : -1.73074436486385
ExAC_dupZ : -2.12231140113626
ExAC_synZ : 0.252414951725747
ExAC_misZ : 1.66092728986058
GenCC_disease : primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; pseudo-TORCH syndrome 3
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 23391734; 23391734[PMID]; 26122121; 26408653; 28087227; 31102697; 31836668; 32092142; 36753016
NCBI_gene_ID : 6773
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_011538697
Tx_version : 3
Tx_start : 56341596
Tx_end : 56360107
Exon_count : 24
Overlapped_tx_length : 18511
Overlapped_CDS_length : 2580
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56341596
Intersect_end : 56360107
600556; OMIM_ID : 600556;
OMIM_phenotype : Immunodeficiency 44, 616636 (3) AR;
Pseudo-TORCH syndrome 3, 618886 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:56349169-56360107P_loss_coord : 12:56349169-56360107
P_loss_source : morbid:STAT2
P_loss_phen : Immunodeficiency 44, 616636 (3) AR; Pseudo-TORCH syndrome 3, 618886 (3) AR
P_loss_hpo : .
18P_snvindel_nb : 18
P_snvindel_phen : Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAP1BGene_name : RAP1B;
LOEUF_bin : 1
GnomAD_pLI : 9.0995e-01
ExAC_pLI : 9.3683e-01
HI : .
TS : .
DDD_HI_percent : 7.01
ACMG : .
ExAC_cnvZ : -0.385397985637022
ExAC_delZ : 0.939134669653142
ExAC_dupZ : -0.938929737906776
ExAC_synZ : 0.494449267346323
ExAC_misZ : 3.24385976682154
GenCC_disease : syndromic constitutional thrombocytopenia
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 5908
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_001010942
Tx_version : 3
Tx_start : 68610898
Tx_end : 68671901
Exon_count : 8
Overlapped_tx_length : 61003
Overlapped_CDS_length : 555
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68610898
Intersect_end : 68671901
179530; OMIM_ID : 179530;
OMIM_phenotype : Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:68610899-68671901P_loss_coord : 12:68610899-68671901
P_loss_source : morbid:RAP1B
P_loss_phen : Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT76Gene_name : KRT76;
LOEUF_bin : 7
GnomAD_pLI : 2.7442e-14
ExAC_pLI : 6.2727e-07
HI : .
TS : .
DDD_HI_percent : 70.49
ACMG : .
ExAC_cnvZ : 1.04896577218691
ExAC_delZ : 0.386815476831752
ExAC_dupZ : 1.1682386889571
ExAC_synZ : -0.909706477377159
ExAC_misZ : -1.32037931600711
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51350
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_015848
Tx_version : 4
Tx_start : 52768154
Tx_end : 52777345
Exon_count : 9
Overlapped_tx_length : 9191
Overlapped_CDS_length : 1917
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52768154
Intersect_end : 52777345
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4263Exomiser_gene_pheno_score : 0.4263
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; increased foot pad pigmentation
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GPR182Gene_name : GPR182;
LOEUF_bin : 7
GnomAD_pLI : 1.3704e-04
ExAC_pLI : 8.5970e-04
HI : .
TS : .
DDD_HI_percent : 74.61
ACMG : .
ExAC_cnvZ : 0.940949088426578
ExAC_delZ : 0.629546998956215
ExAC_dupZ : 0.79007955111226
ExAC_synZ : -0.447534390390738
ExAC_misZ : -0.0366206232008982
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11318
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428198
Tx_version : 1
Tx_start : 56994491
Tx_end : 56998877
Exon_count : 3
Overlapped_tx_length : 4386
Overlapped_CDS_length : 1215
Overlapped_CDS_percent : 96
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56994491
Intersect_end : 56998877
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
USP15Gene_name : USP15;
LOEUF_bin : 0
GnomAD_pLI : 9.9997e-01
ExAC_pLI : 9.9037e-01
HI : .
TS : .
DDD_HI_percent : 8.46
ACMG : .
ExAC_cnvZ : 1.28869108534219
ExAC_delZ : 1.19478043370744
ExAC_dupZ : 0.960717762735593
ExAC_synZ : 0.941763627830022
ExAC_misZ : 3.64032803079031
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9958
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_001252078
Tx_version : 2
Tx_start : 62260403
Tx_end : 62416389
Exon_count : 22
Overlapped_tx_length : 155986
Overlapped_CDS_length : 2946
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62260403
Intersect_end : 62416389
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RBM19Gene_name : RBM19;
LOEUF_bin : 3
GnomAD_pLI : 1.7215e-12
ExAC_pLI : 1.6221e-05
HI : .
TS : .
DDD_HI_percent : 51.03
ACMG : .
ExAC_cnvZ : -0.831528921838379
ExAC_delZ : 0.751459651433688
ExAC_dupZ : -1.42287226885955
ExAC_synZ : 0.455566070823369
ExAC_misZ : -0.38133614650864
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9904
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13-q24.21
Location2 : 5'UTR-3'UTR
Tx : NM_001146699
Tx_version : 2
Tx_start : 113816739
Tx_end : 113966325
Exon_count : 25
Overlapped_tx_length : 149586
Overlapped_CDS_length : 2883
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113816739
Intersect_end : 113966325
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3678Exomiser_gene_pheno_score : 0.3678
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : Craniosynostosis; head decreased width, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GCN1Gene_name : GCN1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10985
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_006836
Tx_version : 2
Tx_start : 120127201
Tx_end : 120194715
Exon_count : 58
Overlapped_tx_length : 67514
Overlapped_CDS_length : 8016
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120127201
Intersect_end : 120194715
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4582Exomiser_gene_pheno_score : 0.4582
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; delayed limb development; exophthalmos
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT18Gene_name : KRT18;
LOEUF_bin : 2
GnomAD_pLI : 7.3477e-01
ExAC_pLI : 6.2478e-01
HI : .
TS : .
DDD_HI_percent : 24.42
ACMG : .
ExAC_cnvZ : -2.08591281464869
ExAC_delZ : -1.70705765244577
ExAC_dupZ : -2.35370767181841
ExAC_synZ : 0.293810969850224
ExAC_misZ : 2.35097474085048
GenCC_disease : cirrhosis, familial
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 8522591
NCBI_gene_ID : 3875
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_199187
Tx_version : 2
Tx_start : 52948854
Tx_end : 52952906
Exon_count : 8
Overlapped_tx_length : 4052
Overlapped_CDS_length : 1293
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52948854
Intersect_end : 52952906
148070; OMIM_ID : 148070;
OMIM_phenotype : Cirrhosis, cryptogenic, 215600 (3) AR;
(Cirrhosis, noncryptogenic, susceptibility to), 215600 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:52949118-52952906P_loss_coord : 12:52949118-52952906
P_loss_source : morbid:KRT18
P_loss_phen : Cirrhosis, cryptogenic, 215600 (3) AR; Cirrhosis, noncryptogenic, susceptibility to, 215600 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMTC3Gene_name : TMTC3;
LOEUF_bin : 2
GnomAD_pLI : 4.6335e-05
ExAC_pLI : 9.0521e-03
HI : .
TS : .
DDD_HI_percent : 25.62
ACMG : .
ExAC_cnvZ : 0.583056317190252
ExAC_delZ : 1.00391066125754
ExAC_dupZ : 0.184043347387934
ExAC_synZ : -0.371260414076339
ExAC_misZ : 1.41025012314675
GenCC_disease : lissencephaly 8; periventricular nodular heterotopia
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 21956870; 27773428; 28973161; 28973161[PMID]
NCBI_gene_ID : 160418
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : 5'UTR-3'UTR
Tx : NM_181783
Tx_version : 4
Tx_start : 88142306
Tx_end : 88199887
Exon_count : 14
Overlapped_tx_length : 57581
Overlapped_CDS_length : 2745
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88142306
Intersect_end : 88199887
617218; OMIM_ID : 617218;
OMIM_phenotype : Lissencephaly 8, 617255 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:88142307-88199887P_loss_coord : 12:88142307-88199887
P_loss_source : morbid:TMTC3
P_loss_phen : Lissencephaly 8, 617255 (3) AR
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : Lissencephaly_8
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RILPL1Gene_name : RILPL1;
LOEUF_bin : 2
GnomAD_pLI : 3.8572e-01
ExAC_pLI : 6.6020e-02
HI : .
TS : .
DDD_HI_percent : 48.92
ACMG : .
ExAC_cnvZ : -0.576731913437299
ExAC_delZ : 0.367641822625258
ExAC_dupZ : -0.908464129077155
ExAC_synZ : 1.03724010329128
ExAC_misZ : 2.60365862526182
GenCC_disease : oculopharyngodistal myopathy 4
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 353116
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_178314
Tx_version : 5
Tx_start : 123470053
Tx_end : 123533719
Exon_count : 7
Overlapped_tx_length : 63666
Overlapped_CDS_length : 1212
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123470053
Intersect_end : 123533719
614092; OMIM_ID : 614092;
OMIM_phenotype : Oculopharyngodistal myopathy 4, 619790 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:123517315-123533719P_loss_coord : 12:123517315-123533719
P_loss_source : morbid:RILPL1
P_loss_phen : Oculopharyngodistal myopathy 4, 619790 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PXNGene_name : PXN;
LOEUF_bin : 2
GnomAD_pLI : 8.2342e-02
ExAC_pLI : 6.5684e-03
HI : .
TS : .
DDD_HI_percent : 8.07
ACMG : .
ExAC_cnvZ : 0.601543067137193
ExAC_delZ : 0.430951738375953
ExAC_dupZ : 0.48426634056979
ExAC_synZ : -0.480650519718118
ExAC_misZ : 0.707938543930797
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7837
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : XM_047429236
Tx_version : 1
Tx_start : 120210446
Tx_end : 120250163
Exon_count : 16
Overlapped_tx_length : 39717
Overlapped_CDS_length : 3408
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120210446
Intersect_end : 120250163
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KCNC2Gene_name : KCNC2;
LOEUF_bin : 2
GnomAD_pLI : 1.8911e-01
ExAC_pLI : 3.5968e-03
HI : .
TS : .
DDD_HI_percent : 17.89
ACMG : .
ExAC_cnvZ : 0.860713622642833
ExAC_delZ : 0.421231346707422
ExAC_dupZ : 0.744984371576242
ExAC_synZ : 1.65897974216079
ExAC_misZ : 3.59033756435823
GenCC_disease : developmental and epileptic encephalopathy 103
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : 23475819; 28714951; 29168350; 30314295; 31972370; 32392612; 33111300; 35314505
NCBI_gene_ID : 3747
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_139137
Tx_version : 4
Tx_start : 75040077
Tx_end : 75209839
Exon_count : 5
Overlapped_tx_length : 169762
Overlapped_CDS_length : 1917
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75040077
Intersect_end : 75209839
176256; OMIM_ID : 176256;
OMIM_phenotype : Developmental and epileptic encephalopathy 103, 619913 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:75191882-75208004P_loss_coord : 12:75191882-75208004
P_loss_source : morbid:KCNC2
P_loss_phen : Developmental and epileptic encephalopathy 103, 619913 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC11A2Gene_name : SLC11A2;
LOEUF_bin : 2
GnomAD_pLI : 6.6528e-03
ExAC_pLI : 6.2352e-03
HI : .
TS : .
DDD_HI_percent : 19.25
ACMG : .
ExAC_cnvZ : 0.431450996085469
ExAC_delZ : -0.383095554134285
ExAC_dupZ : 0.925046736167875
ExAC_synZ : -0.0139447977393804
ExAC_misZ : 2.11235694360176
GenCC_disease : microcytic anemia with liver iron overload
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 1545009; 15459009; 16023393; 16160008; 16160008[PMID]_16439678[PMID]; 1616008; 16439678; 16584902; 19553145; 21871825; 22313374; 29178181; 9642100
NCBI_gene_ID : 4891
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047428887
Tx_version : 1
Tx_start : 50979783
Tx_end : 51028886
Exon_count : 18
Overlapped_tx_length : 49103
Overlapped_CDS_length : 1794
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50979783
Intersect_end : 51028886
600523; OMIM_ID : 600523;
OMIM_phenotype : Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:50985992-51028886P_loss_coord : 12:50985992-51028886
P_loss_source : morbid:SLC11A2
P_loss_phen : Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) AR
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Microcytic_anemia_with_liver_iron_overload
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CRADDGene_name : CRADD;
LOEUF_bin : 2
GnomAD_pLI : 8.7862e-01
ExAC_pLI : 7.3181e-01
HI : 30
TS : 0
DDD_HI_percent : 41.34
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.83660051482895
ExAC_misZ : -0.250372286466606
GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 34; syndromic intellectual disability
GenCC_moi : AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 22279524; 22279524[PMID]; 27773430; 28686357; 30167849; 30914828
NCBI_gene_ID : 8738
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_003805
Tx_version : 5
Tx_start : 93677374
Tx_end : 93850756
Exon_count : 3
Overlapped_tx_length : 173382
Overlapped_CDS_length : 600
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93677374
Intersect_end : 93850756
603454; OMIM_ID : 603454;
OMIM_phenotype : Intellectual developmental disorder, AR 34, with variant lissencephaly, 614499 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:93678769-93738636; 12:93849951-93850271P_loss_coord : 12:93678769-93738636; 12:93849951-93850271
P_loss_source : dbVar:nssv18788310; morbid:CRADD
P_loss_phen : Intellectual developmental disorder, AR 34, with variant lissencephaly, 614499 (3) AR
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Intellectual_disability; Intellectual_disability,_autosomal_recessive_34
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FGD4Gene_name : FGD4;
LOEUF_bin : 2
GnomAD_pLI : 9.8247e-03
ExAC_pLI : 3.3578e-01
HI : 30
TS : 0
DDD_HI_percent : 50.19
ACMG : .
ExAC_cnvZ : 0.626250768039517
ExAC_delZ : 0.051982647518103
ExAC_dupZ : 0.837867862231995
ExAC_synZ : 0.599620573287202
ExAC_misZ : 1.15793220451047
GenCC_disease : Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 4H
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 153601; 15744041; 17564972; 23171661; 23926620[PMID]_20301641[PMID]
NCBI_gene_ID : 121512
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : XM_047428291
Tx_version : 1
Tx_start : 32485971
Tx_end : 32646050
Exon_count : 18
Overlapped_tx_length : 160079
Overlapped_CDS_length : 2769
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32485971
Intersect_end : 32646050
611104; OMIM_ID : 611104;
OMIM_phenotype : Charcot-Marie-Tooth disease, type 4H, 609311 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:32576257-32640543; 12:32576353-32619876; 1[...]P_loss_coord : 12:32576257-32640543; 12:32576353-32619876; 12:32576359-32640533; 12:32600488-32646050
P_loss_source : dbVar:nssv15144825; dbVar:nssv16214006; dbVar:nssv17972275; morbid:FGD4
P_loss_phen : Charcot-Marie-Tooth disease, type 4H, 609311 (3) AR
P_loss_hpo : .
29P_snvindel_nb : 29
P_snvindel_phen : Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease_type_4; Charcot-Marie-Tooth_disease_type_4H; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FKBP11Gene_name : FKBP11;
LOEUF_bin : 8
GnomAD_pLI : 6.4642e-07
ExAC_pLI : 2.2276e-05
HI : .
TS : .
DDD_HI_percent : 46.29
ACMG : .
ExAC_cnvZ : 0.935511526108704
ExAC_delZ : 0.242695366997268
ExAC_dupZ : 1.13269404506601
ExAC_synZ : 0.337639975931063
ExAC_misZ : 0.148472349549366
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51303
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047428939
Tx_version : 1
Tx_start : 48921962
Tx_end : 48939034
Exon_count : 7
Overlapped_tx_length : 17072
Overlapped_CDS_length : 849
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48921962
Intersect_end : 48939034
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4267Exomiser_gene_pheno_score : 0.4267
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HIP1RGene_name : HIP1R;
LOEUF_bin : 4
GnomAD_pLI : 1.4566e-15
ExAC_pLI : 1.4430e-06
HI : .
TS : .
DDD_HI_percent : 49.72
ACMG : .
ExAC_cnvZ : 1.01325031527539
ExAC_delZ : 0.593813293495425
ExAC_dupZ : 1.054173587801
ExAC_synZ : -0.741635980218724
ExAC_misZ : -1.01796287622861
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9026
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_003959
Tx_version : 3
Tx_start : 122835456
Tx_end : 122862961
Exon_count : 32
Overlapped_tx_length : 27505
Overlapped_CDS_length : 3207
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122835456
Intersect_end : 122862961
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3688Exomiser_gene_pheno_score : 0.3688
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PTPRQGene_name : PTPRQ;
LOEUF_bin : 3
GnomAD_pLI : 4.2188e-21
ExAC_pLI : .
HI : 30
TS : .
DDD_HI_percent : 43.92
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal recessive nonsyndromic hearing loss 84A; hearing loss, autosomal dominant 73; hearing loss, autosomal recessive
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 14534255; 20301607[PMID]_24148127[PMID]; 20346435; 20472657; 22357859; 23767834; 25557914; 25919374; 26969326; 29309402; 29309402[PMID]; 29849575; 31655630
NCBI_gene_ID : 374462
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_001145026
Tx_version : 2
Tx_start : 80444234
Tx_end : 80680273
Exon_count : 45
Overlapped_tx_length : 236039
Overlapped_CDS_length : 6900
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80444234
Intersect_end : 80680273
603317; OMIM_ID : 603317;
OMIM_phenotype : Deafness, AD 73, 617663 (3) AD;
Deafness, AR 84A, 613391 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:80444235-80680273; 12:80669007-80669463P_loss_coord : 12:80444235-80680273; 12:80669007-80669463
P_loss_source : dbVar:nssv17956485; morbid:PTPRQ
P_loss_phen : Deafness, AD 73, 617663 (3) AD; Deafness, AR 84A, 613391 (3) AR
P_loss_hpo : .
7P_snvindel_nb : 7
P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_84A; Hearing_impairment; Impaired_vibration_sensation_in_the_lower_limbs; Loss_of_ambulation; Pain; Pes_cavus; Pes_planus; Unsteady_gait
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DNAH10Gene_name : DNAH10;
LOEUF_bin : 3
GnomAD_pLI : 1.3846e-57
ExAC_pLI : 4.1403e-37
HI : .
TS : .
DDD_HI_percent : 72.27
ACMG : .
ExAC_cnvZ : 0.150371039911743
ExAC_delZ : 0.457649090546628
ExAC_dupZ : 0.0165507230108045
ExAC_synZ : -0.888187499776838
ExAC_misZ : -0.334400602189212
GenCC_disease : spermatogenic failure 56
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 196385
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001372106
Tx_version : 1
Tx_start : 123762300
Tx_end : 123935714
Exon_count : 79
Overlapped_tx_length : 173414
Overlapped_CDS_length : 13770
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123762300
Intersect_end : 123935714
605884; OMIM_ID : 605884;
OMIM_phenotype : Spermatogenic failure 56, 619515 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:123853962-123935714P_loss_coord : 12:123853962-123935714
P_loss_source : morbid:DNAH10
P_loss_phen : Spermatogenic failure 56, 619515 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DHHGene_name : DHH;
LOEUF_bin : 3
GnomAD_pLI : 2.2445e-01
ExAC_pLI : 2.5971e-01
HI : .
TS : .
DDD_HI_percent : 11.3
ACMG : .
ExAC_cnvZ : 0.734298703426551
ExAC_delZ : 0.630242325894619
ExAC_dupZ : 0.582257879719589
ExAC_synZ : 2.18329832716605
ExAC_misZ : 3.79390077469744
GenCC_disease : 46,XY complete gonadal dysgenesis; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 10482238; 11017805; 11017805[PMID]; 15356051; 20301714[PMID]; 21242195; 21816240; 23786321; 25383892; 25927242; 27899157; 29471294; 7985023; 8805249
NCBI_gene_ID : 50846
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_021044
Tx_version : 4
Tx_start : 49086655
Tx_end : 49094801
Exon_count : 3
Overlapped_tx_length : 8146
Overlapped_CDS_length : 1191
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49086655
Intersect_end : 49094801
605423; OMIM_ID : 605423;
OMIM_phenotype : 46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3) AR;
46XY sex reversal 7, 233420 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:49086656-49094801P_loss_coord : 12:49086656-49094801
P_loss_source : morbid:DHH
P_loss_phen : 46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3) AR; 46XY sex reversal 7, 233420 (3) AR
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : 46,XY_gonadal_dysgenesis-motor_and_sensory_neuropathy_syndrome; 46,XY_sex_reversal_7
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC25A3Gene_name : SLC25A3;
LOEUF_bin : 3
GnomAD_pLI : 7.4834e-02
ExAC_pLI : 7.1558e-02
HI : .
TS : .
DDD_HI_percent : 13.16
ACMG : .
ExAC_cnvZ : 0.627098499238911
ExAC_delZ : 0.768513333042948
ExAC_dupZ : 0.338256617633331
ExAC_synZ : 0.950723135829094
ExAC_misZ : 1.07863350823368
GenCC_disease : cardiomyopathy-hypotonia-lactic acidosis syndrome
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 17273968; 17273968[PMID]; 21763135; 25681081
NCBI_gene_ID : 5250
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_005888
Tx_version : 4
Tx_start : 98593685
Tx_end : 98606367
Exon_count : 8
Overlapped_tx_length : 12682
Overlapped_CDS_length : 1089
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98593685
Intersect_end : 98606367
600370; OMIM_ID : 600370;
OMIM_phenotype : Mitochondrial phosphate carrier deficiency, 610773 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:98593686-98606367P_loss_coord : 12:98593686-98606367
P_loss_source : morbid:SLC25A3
P_loss_phen : Mitochondrial phosphate carrier deficiency, 610773 (3) AR
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Cardiomyopathy-hypotonia-lactic_acidosis_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HPDGene_name : HPD;
LOEUF_bin : 3
GnomAD_pLI : 5.2764e-04
ExAC_pLI : 7.7652e-03
HI : .
TS : .
DDD_HI_percent : 40.84
ACMG : .
ExAC_cnvZ : -1.78760458031894
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.818921953021943
ExAC_synZ : -0.0424616607217827
ExAC_misZ : 1.2119949646798
GenCC_disease : hawkinsinuria; tyrosinemia type III
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 10942115; 10942115[PMID]; 11073718; 16602095; 17560158; 20677779; 23036342; 26226126; 27488560; 31342835
NCBI_gene_ID : 3242
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_002150
Tx_version : 3
Tx_start : 121839526
Tx_end : 121858859
Exon_count : 14
Overlapped_tx_length : 19333
Overlapped_CDS_length : 1182
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121839526
Intersect_end : 121858859
609695; OMIM_ID : 609695;
OMIM_phenotype : Hawkinsinuria, 140350 (3) AD;
Tyrosinemia, type III, 276710 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:121843691-121847234; 12:121857434-121858686P_loss_coord : 12:121843691-121847234; 12:121857434-121858686
P_loss_source : dbVar:nssv15130233; dbVar:nssv18830870
P_loss_phen : .
P_loss_hpo : .
9P_snvindel_nb : 9
P_snvindel_phen : Hawkinsinuria; Tyrosinemia_type_III
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PFDN5Gene_name : PFDN5;
LOEUF_bin : 7
GnomAD_pLI : 5.6773e-04
ExAC_pLI : 4.3386e-02
HI : .
TS : .
DDD_HI_percent : 12.74
ACMG : .
ExAC_cnvZ : 0.491857089880872
ExAC_delZ : 0.875610965940442
ExAC_dupZ : 0.144167904611048
ExAC_synZ : 0.0104154406495299
ExAC_misZ : 0.169435186003908
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5204
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_002624
Tx_version : 4
Tx_start : 53295541
Tx_end : 53299450
Exon_count : 6
Overlapped_tx_length : 3909
Overlapped_CDS_length : 465
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53295541
Intersect_end : 53299450
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4069Exomiser_gene_pheno_score : 0.4069
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye electrophysiology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AMIGO2Gene_name : AMIGO2;
LOEUF_bin : 2
GnomAD_pLI : 5.9743e-01
ExAC_pLI : 5.4524e-01
HI : .
TS : .
DDD_HI_percent : 66.81
ACMG : .
ExAC_cnvZ : 0.531071781322495
ExAC_delZ : 0.230368928125819
ExAC_dupZ : 0.427663359344371
ExAC_synZ : 0.447908808316207
ExAC_misZ : 1.6445763605293
GenCC_disease : craniofacial microsomia 1
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 347902
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_047428785
Tx_version : 1
Tx_start : 47075706
Tx_end : 47079959
Exon_count : 2
Overlapped_tx_length : 4253
Overlapped_CDS_length : 1569
Overlapped_CDS_percent : 96
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47075706
Intersect_end : 47079959
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3374Exomiser_gene_pheno_score : 0.3374
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal starburst amacrine cell morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SDSLGene_name : SDSL;
LOEUF_bin : 9
GnomAD_pLI : 1.3641e-11
ExAC_pLI : 2.9914e-09
HI : .
TS : .
DDD_HI_percent : 75.59
ACMG : .
ExAC_cnvZ : 0.439561658565982
ExAC_delZ : 0.2911634462733
ExAC_dupZ : 0.402569653715957
ExAC_synZ : 0.410837375621403
ExAC_misZ : -0.754035832519145
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113675
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : XM_017018763
Tx_version : 2
Tx_start : 113425896
Tx_end : 113438276
Exon_count : 8
Overlapped_tx_length : 12380
Overlapped_CDS_length : 1029
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113425896
Intersect_end : 113438276
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4282Exomiser_gene_pheno_score : 0.4282
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AVILGene_name : AVIL;
LOEUF_bin : 4
GnomAD_pLI : 1.6972e-13
ExAC_pLI : 1.0304e-10
HI : .
TS : .
DDD_HI_percent : 49.04
ACMG : .
ExAC_cnvZ : -0.767856959905472
ExAC_delZ : -0.962858132706767
ExAC_dupZ : -0.685513612881477
ExAC_synZ : -0.0232041158055695
ExAC_misZ : -0.579313351943333
GenCC_disease : nephrotic syndrome, type 21
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 29058690
NCBI_gene_ID : 10677
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_047428110
Tx_version : 1
Tx_start : 57797379
Tx_end : 57818734
Exon_count : 19
Overlapped_tx_length : 21355
Overlapped_CDS_length : 2592
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57797379
Intersect_end : 57818734
613397; OMIM_ID : 613397;
OMIM_phenotype : Nephrotic syndrome, type 21, 618594 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:57802954-57818734P_loss_coord : 12:57802954-57818734
P_loss_source : morbid:AVIL
P_loss_phen : Nephrotic syndrome, type 21, 618594 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OTOGLGene_name : OTOGL;
LOEUF_bin : 4
GnomAD_pLI : 4.7009e-52
ExAC_pLI : 3.7282e-31
HI : 30
TS : 0
DDD_HI_percent : 42.95
ACMG : .
ExAC_cnvZ : -1.092762622497
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.572180850605919
ExAC_synZ : -1.45936672760871
ExAC_misZ : -3.30272720946863
GenCC_disease : autosomal recessive nonsyndromic hearing loss 84B; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 141578; 171932; 23122586; 23122586[PMID]; 234034; 23850727; 25719458; 25829320; 264364; 26969326; 28426234
NCBI_gene_ID : 283310
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : XM_005268802
Tx_version : 4
Tx_start : 80130376
Tx_end : 80380880
Exon_count : 62
Overlapped_tx_length : 250504
Overlapped_CDS_length : 7086
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80130376
Intersect_end : 80380880
614925; OMIM_ID : 614925;
OMIM_phenotype : Deafness, AR 84B, 614944 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:80217330-80380880; 12:80238803-80331073; 1[...]P_loss_coord : 12:80217330-80380880; 12:80238803-80331073; 12:80238803-80334477; 12:80238886-80339032; 12:80278171-80336529; 12:80320403-80320720; 12:80367491-80378127
P_loss_source : dbVar:nssv15130108; dbVar:nssv15130109; dbVar:nssv15771053; dbVar:nssv15774680; dbVar:nssv15776176; dbVar:nssv18790174; morbid:OTOGL
P_loss_phen : Deafness, AR 84B, 614944 (3) AR
P_loss_hpo : .
34P_snvindel_nb : 34
P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_84B; Rare_genetic_deafness; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GPD1Gene_name : GPD1;
LOEUF_bin : 4
GnomAD_pLI : 5.5506e-03
ExAC_pLI : 1.4732e-01
HI : 30
TS : 0
DDD_HI_percent : 31.74
ACMG : .
ExAC_cnvZ : 0.823906294961791
ExAC_delZ : 0.139054778471353
ExAC_dupZ : 1.03635343465444
ExAC_synZ : -1.19351914966665
ExAC_misZ : -0.128151776721284
GenCC_disease : transient infantile hypertriglyceridemia and hepatosteatosis
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 22226083; 22226083[PMID]; 29940878
NCBI_gene_ID : 2819
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_005276
Tx_version : 4
Tx_start : 50104007
Tx_end : 50111313
Exon_count : 8
Overlapped_tx_length : 7306
Overlapped_CDS_length : 1050
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50104007
Intersect_end : 50111313
138420; OMIM_ID : 138420;
OMIM_phenotype : Hypertriglyceridemia, transient infantile, 614480 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:50104008-50111313P_loss_coord : 12:50104008-50111313
P_loss_source : morbid:GPD1
P_loss_phen : Hypertriglyceridemia, transient infantile, 614480 (3) AR
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : Transient_infantile_hypertriglyceridemia_and_hepatosteatosis
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MMABGene_name : MMAB;
LOEUF_bin : 4
GnomAD_pLI : 4.1291e-03
ExAC_pLI : 3.8772e-03
HI : 30
TS : 0
DDD_HI_percent : 67.13
ACMG : .
ExAC_cnvZ : -1.44619840166543
ExAC_delZ : -0.669706377350663
ExAC_dupZ : -1.64565341413701
ExAC_synZ : 0.541994745850033
ExAC_misZ : 0.116871837447281
GenCC_disease : methylmalonic aciduria, cblB type
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 12471062; 15781192; 16410054; 251110; NULL
NCBI_gene_ID : 326625
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_052845
Tx_version : 4
Tx_start : 109553714
Tx_end : 109573504
Exon_count : 9
Overlapped_tx_length : 19790
Overlapped_CDS_length : 753
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109553714
Intersect_end : 109573504
607568; OMIM_ID : 607568;
OMIM_phenotype : Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:109553715-109573504; 12:109561021-109565196P_loss_coord : 12:109553715-109573504; 12:109561021-109565196
P_loss_source : dbVar:nssv15131657; morbid:MMAB
P_loss_phen : Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3) AR
P_loss_hpo : .
37P_snvindel_nb : 37
P_snvindel_phen : Inborn_genetic_diseases; MMAB-related_condition; Methylmalonic_acidemia; Methylmalonic_aciduria,_cblB_type
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
B4GALNT1Gene_name : B4GALNT1;
LOEUF_bin : 4
GnomAD_pLI : 3.9259e-05
ExAC_pLI : 5.6074e-02
HI : .
TS : .
DDD_HI_percent : 49.81
ACMG : .
ExAC_cnvZ : 0.290886139792294
ExAC_delZ : 1.08031657614542
ExAC_dupZ : -0.14377295814305
ExAC_synZ : 1.92416950961529
ExAC_misZ : 2.74473291492283
GenCC_disease : complex hereditary spastic paraplegia; hereditary spastic paraplegia 26
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 23746551; 23746551[PMID]
NCBI_gene_ID : 2583
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428680
Tx_version : 1
Tx_start : 57623408
Tx_end : 57632498
Exon_count : 10
Overlapped_tx_length : 9090
Overlapped_CDS_length : 1968
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57623408
Intersect_end : 57632498
601873; OMIM_ID : 601873;
OMIM_phenotype : Spastic paraplegia 26, AR, 609195 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
18P_snvindel_nb : 18
P_snvindel_phen : Hereditary_spastic_paraplegia_26; Inborn_genetic_diseases; Spastic_paraplegia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UNGGene_name : UNG;
LOEUF_bin : 4
GnomAD_pLI : 1.7247e-03
ExAC_pLI : 4.6581e-02
HI : .
TS : .
DDD_HI_percent : 7.38
ACMG : .
ExAC_cnvZ : -1.76961532359739
ExAC_delZ : -0.899495092756445
ExAC_dupZ : -2.0478834677325
ExAC_synZ : -0.133726100414134
ExAC_misZ : -0.110554244784142
GenCC_disease : hyper-IgM syndrome type 5
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 12958596; 15494304; 19302039
NCBI_gene_ID : 7374
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_080911
Tx_version : 3
Tx_start : 109097596
Tx_end : 109110992
Exon_count : 7
Overlapped_tx_length : 13396
Overlapped_CDS_length : 942
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109097596
Intersect_end : 109110992
191525; OMIM_ID : 191525;
OMIM_phenotype : Immunodeficiency with hyper IgM, type 5, 608106 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:109098172-109110992P_loss_coord : 12:109098172-109110992
P_loss_source : morbid:UNG
P_loss_phen : Immunodeficiency with hyper IgM, type 5, 608106 (3) AR
P_loss_hpo : .
10P_snvindel_nb : 10
P_snvindel_phen : Hyper-IgM_syndrome_type_5
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DPY19L2Gene_name : DPY19L2;
LOEUF_bin : 4
GnomAD_pLI : 1.0936e-13
ExAC_pLI : 7.0294e-05
HI : .
TS : .
DDD_HI_percent : 81.13
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.02618176351368
ExAC_misZ : 1.66555804568279
GenCC_disease : male infertility due to globozoospermia; spermatogenic failure 9
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 17008355; 21397063; 21397063[PMID]_22571172[PMID]; 21397064; 22627659; 22653751; 25755131; 25780569
NCBI_gene_ID : 283417
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_173812
Tx_version : 5
Tx_start : 63558912
Tx_end : 63668493
Exon_count : 22
Overlapped_tx_length : 109581
Overlapped_CDS_length : 2277
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63558912
Intersect_end : 63668493
613893; OMIM_ID : 613893;
OMIM_phenotype : Spermatogenic failure 9, 613958 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:63595967-63596037; 12:63612272-63668493P_loss_coord : 12:63595967-63596037; 12:63612272-63668493
P_loss_source : dbVar:nssv16213932; morbid:DPY19L2
P_loss_phen : Spermatogenic failure 9, 613958 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Spermatogenic_failure_9
dbVarB_loss_source : dbVar
B_loss_coord : chr12:63529497-63725471; chr12:63545378-63723455; chr12:63552489-63747725
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
POLR3BGene_name : POLR3B;
LOEUF_bin : 4
GnomAD_pLI : 1.6812e-23
ExAC_pLI : 2.7299e-09
HI : .
TS : .
DDD_HI_percent : 10.15
ACMG : .
ExAC_cnvZ : 0.173101933651209
ExAC_delZ : -1.44345472253267
ExAC_dupZ : 1.61433019894927
ExAC_synZ : 0.68504337804406
ExAC_misZ : 3.56902509736716
GenCC_disease : Charcot-Marie-Tooth disease, demyelinating, IIA 1I; endosteal sclerosis-cerebellar hypoplasia syndrome; hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 18044988; 22036171; 22036172; 22855961[PMID]_22036172[PMID]; 23355746; 25339210; 26478204; 28589944[PMID]_15672385[PMID]; 31221184; 33417887; 34666706; 35482004
NCBI_gene_ID : 55703
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_018082
Tx_version : 6
Tx_start : 106357747
Tx_end : 106510198
Exon_count : 28
Overlapped_tx_length : 152451
Overlapped_CDS_length : 3402
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106357747
Intersect_end : 106510198
614366; OMIM_ID : 614366;
OMIM_phenotype : Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3) AD;
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:106358110-106510198; 12:106454483-106463640P_loss_coord : 12:106358110-106510198; 12:106454483-106463640
P_loss_source : dbVar:nssv18786958; morbid:POLR3B
P_loss_phen : Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3) AD; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and; or hypogonadotropic hypogonadism, 614381 (3) AR
P_loss_hpo : .
23P_snvindel_nb : 23
P_snvindel_phen : Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I; Hypogonadotropic_hypogonadism; Hypogonadotropic_hypogonadism_7_with_or_without_anosmia; Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism; Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome; POLR3-related_leukodystrophy; POLR3B-related_condition; Pol_III-related_leukodystrophy; See_cases; not_specified
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KNTC1Gene_name : KNTC1;
LOEUF_bin : 4
GnomAD_pLI : 5.3346e-43
ExAC_pLI : 4.7772e-32
HI : .
TS : .
DDD_HI_percent : 6.81
ACMG : .
ExAC_cnvZ : -1.53037576386883
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.592831798998926
ExAC_synZ : -0.800397903846749
ExAC_misZ : -2.53706221716748
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9735
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_014708
Tx_version : 6
Tx_start : 122527248
Tx_end : 122626396
Exon_count : 64
Overlapped_tx_length : 99148
Overlapped_CDS_length : 6630
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122527248
Intersect_end : 122626396
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3561Exomiser_gene_pheno_score : 0.3561
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; narrow eye opening
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MARCHF9Gene_name : MARCHF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 92979
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_138396
Tx_version : 6
Tx_start : 57755102
Tx_end : 57760411
Exon_count : 4
Overlapped_tx_length : 5309
Overlapped_CDS_length : 1041
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57755102
Intersect_end : 57760411
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4337Exomiser_gene_pheno_score : 0.4337
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal bone mineralization
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BLOC1S1Gene_name : BLOC1S1;
LOEUF_bin : 5
GnomAD_pLI : 7.0821e-02
ExAC_pLI : 2.0580e-01
HI : .
TS : .
DDD_HI_percent : 27.11
ACMG : .
ExAC_cnvZ : 0.865241083359408
ExAC_delZ : 0.390039338293028
ExAC_dupZ : 0.777388536595481
ExAC_synZ : -0.578989635229253
ExAC_misZ : -0.604642711223636
GenCC_disease : complex neurodevelopmental disorder
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 33875846
NCBI_gene_ID : 2647
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001487
Tx_version : 4
Tx_start : 55716045
Tx_end : 55719703
Exon_count : 4
Overlapped_tx_length : 3658
Overlapped_CDS_length : 462
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55716045
Intersect_end : 55719703
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3706Exomiser_gene_pheno_score : 0.3706
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; absent eye pigmentation
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IRAK4Gene_name : IRAK4;
LOEUF_bin : 5
GnomAD_pLI : 7.8001e-09
ExAC_pLI : 5.7687e-04
HI : 30
TS : 0
DDD_HI_percent : 45.48
ACMG : .
ExAC_cnvZ : -0.190483915106364
ExAC_delZ : -0.967315580202105
ExAC_dupZ : 0.331384081676816
ExAC_synZ : -0.361028829290328
ExAC_misZ : -1.13435509329628
GenCC_disease : immunodeficiency 67
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 17893200; 21057262; 24316379; 610799; NULL
NCBI_gene_ID : 51135
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001114182
Tx_version : 3
Tx_start : 43758950
Tx_end : 43789541
Exon_count : 13
Overlapped_tx_length : 30591
Overlapped_CDS_length : 1383
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 43758950
Intersect_end : 43789541
606883; OMIM_ID : 606883;
OMIM_phenotype : Immunodeficiency 67, 607676 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:43759207-43789541; 12:43775406-43788500; 1[...]P_loss_coord : 12:43759207-43789541; 12:43775406-43788500; 12:43782288-43782510; 12:43783643-43786735
P_loss_source : dbVar:nssv15129308; dbVar:nssv16866485; dbVar:nssv17972029; morbid:IRAK4
P_loss_phen : Immunodeficiency 67, 607676 (3) AR
P_loss_hpo : .
17P_snvindel_nb : 17
P_snvindel_phen : IRAK4-related_condition; Immunodeficiency_67
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
POC1BGene_name : POC1B;
LOEUF_bin : 5
GnomAD_pLI : 3.0483e-08
ExAC_pLI : 5.8943e-05
HI : .
TS : .
DDD_HI_percent : 43.83
ACMG : .
ExAC_cnvZ : 0.146120197056216
ExAC_delZ : 0.748933752079521
ExAC_dupZ : -0.224866353738072
ExAC_synZ : 0.301925535326425
ExAC_misZ : -0.952718508024199
GenCC_disease : cone-rod dystrophy; cone-rod dystrophy 20
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 20008567; 24945461; 25018096; 25018096[PMID]; 25044745; 29220607
NCBI_gene_ID : 282809
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_172240
Tx_version : 3
Tx_start : 89419717
Tx_end : 89526047
Exon_count : 12
Overlapped_tx_length : 106330
Overlapped_CDS_length : 1437
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89419717
Intersect_end : 89526047
614784; OMIM_ID : 614784;
OMIM_phenotype : Cone-rod dystrophy 20, 615973 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:89419718-89526047; 12:89421154-89421277; 1[...]P_loss_coord : 12:89419718-89526047; 12:89421154-89421277; 12:89459619-89472295
P_loss_source : dbVar:nssv17971305; dbVar:nssv18790162; morbid:POC1B
P_loss_phen : Cone-rod dystrophy 20, 615973 (3) AR
P_loss_hpo : .
25P_snvindel_nb : 25
P_snvindel_phen : Cone-rod_dystrophy; Cone-rod_dystrophy_20; Retinal_dystrophy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
EIF2B1Gene_name : EIF2B1;
LOEUF_bin : 5
GnomAD_pLI : 7.6150e-05
ExAC_pLI : 1.0480e-01
HI : 30
TS : .
DDD_HI_percent : 49.37
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.52270330491505
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.0444189291440121
ExAC_misZ : 1.46578463764889
GenCC_disease : leukoencephalopathy with vanishing white matter; leukoencephalopathy with vanishing white matter 1; ovarioleukodystrophy
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 11835386; 20301435[PMID]_15136673[PMID]; 25843247; 26285592; 32865661; 33432707
NCBI_gene_ID : 1967
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001414
Tx_version : 4
Tx_start : 123620405
Tx_end : 123633686
Exon_count : 9
Overlapped_tx_length : 13281
Overlapped_CDS_length : 918
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123620405
Intersect_end : 123633686
606686; OMIM_ID : 606686;
OMIM_phenotype : Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:123620406-123633686P_loss_coord : 12:123620406-123633686
P_loss_source : morbid:EIF2B1
P_loss_phen : Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896 (3) AR
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PFKMGene_name : PFKM;
LOEUF_bin : 5
GnomAD_pLI : 3.7625e-18
ExAC_pLI : 6.0326e-07
HI : .
TS : .
DDD_HI_percent : 13.85
ACMG : .
ExAC_cnvZ : -0.476164279138083
ExAC_delZ : 0.554494612945779
ExAC_dupZ : -0.963949508847005
ExAC_synZ : 1.18015899655463
ExAC_misZ : 2.57737631717647
GenCC_disease : glycogen storage disease VII
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 22133655; 24427140; 27066546; 30792690; 7825568; 8037209; NULL
NCBI_gene_ID : 5213
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_047428999
Tx_version : 1
Tx_start : 48105480
Tx_end : 48146404
Exon_count : 26
Overlapped_tx_length : 40924
Overlapped_CDS_length : 2862
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48105480
Intersect_end : 48146404
610681; OMIM_ID : 610681;
OMIM_phenotype : Glycogen storage disease VII, 232800 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:48122647-48146404P_loss_coord : 12:48122647-48146404
P_loss_source : morbid:PFKM
P_loss_phen : Glycogen storage disease VII, 232800 (3) AR
P_loss_hpo : .
37P_snvindel_nb : 37
P_snvindel_phen : Glycogen_storage_disease; Glycogen_storage_disease,_type_VII; Rhabdomyolysis
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AMHR2Gene_name : AMHR2;
LOEUF_bin : 5
GnomAD_pLI : 2.7013e-10
ExAC_pLI : 5.9308e-07
HI : .
TS : .
DDD_HI_percent : 32.73
ACMG : .
ExAC_cnvZ : 0.483836593443314
ExAC_delZ : -0.137382436458176
ExAC_dupZ : 0.76690035542466
ExAC_synZ : -0.0647955995273722
ExAC_misZ : -0.251975944180663
GenCC_disease : persistent Mullerian duct syndrome
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 19359476; 23295284[PMID]; 249214; 251078; 251318; 28094762; 28528332; 8872466
NCBI_gene_ID : 269
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_011538173
Tx_version : 2
Tx_start : 53423854
Tx_end : 53431672
Exon_count : 12
Overlapped_tx_length : 7818
Overlapped_CDS_length : 1782
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53423854
Intersect_end : 53431672
600956; OMIM_ID : 600956;
OMIM_phenotype : Persistent Mullerian duct syndrome, type II, 261550 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
12:53425086-53431672P_loss_coord : 12:53425086-53431672
P_loss_source : morbid:AMHR2
P_loss_phen : Persistent Mullerian duct syndrome, type II, 261550 (3) AR
P_loss_hpo : .
9P_snvindel_nb : 9
P_snvindel_phen : Male_pseudohermaphroditism; Persistent_Mullerian_duct_syndrome; Persistent_mullerian_duct_syndrome,_type_II
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACADSGene_name : ACADS;
LOEUF_bin : 5
GnomAD_pLI : 2.8026e-06
ExAC_pLI : 1.6291e-04
HI : .
TS : .
DDD_HI_percent : 57.39
ACMG : .
ExAC_cnvZ : -0.848236534066731
ExAC_delZ : -1.97506930941631
ExAC_dupZ : 0.0423408765318944
ExAC_synZ : 0.523952348882777
ExAC_misZ : 0.538306042713068
GenCC_disease : short chain acyl-CoA dehydrogenase deficiency
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 12736383; 12736388; 18523805; 21938826[PMID]; 22241096; 27051597; 2808706
NCBI_gene_ID : 35
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_000017
Tx_version : 4
Tx_start : 120725825
Tx_end : 120740008
Exon_count : 10
Overlapped_tx_length : 14183
Overlapped_CDS_length : 1239
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120725825
Intersect_end : 120740008
606885; OMIM_ID : 606885;
OMIM_phenotype : Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:120725826-120740008; 12:120734963-12073843[...]P_loss_coord : 12:120725826-120740008; 12:120734963-120738432; 12:120736652-120738644
P_loss_source : dbVar:nssv17973463; dbVar:nssv18790975; morbid:ACADS
P_loss_phen : Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) AR
P_loss_hpo : .
33P_snvindel_nb : 33
P_snvindel_phen : ACADS-related_condition; Deficiency_of_butyryl-CoA_dehydrogenase; Inborn_genetic_diseases; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SDSGene_name : SDS;
LOEUF_bin : 5
GnomAD_pLI : 1.3923e-04
ExAC_pLI : 5.4843e-03
HI : .
TS : .
DDD_HI_percent : 61.05
ACMG : .
ExAC_cnvZ : 0.12720463666295
ExAC_delZ : -0.0458737947210949
ExAC_dupZ : 0.1586220466016
ExAC_synZ : -0.974402066089358
ExAC_misZ : 0.531166859955744
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51119
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_006843
Tx_version : 3
Tx_start : 113392444
Tx_end : 113403887
Exon_count : 8
Overlapped_tx_length : 11443
Overlapped_CDS_length : 987
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113392444
Intersect_end : 113403887
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:113392445-113403887P_loss_coord : 12:113392445-113403887
P_loss_source : morbid:SDS
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SYCP3Gene_name : SYCP3;
LOEUF_bin : 5
GnomAD_pLI : 9.1772e-05
ExAC_pLI : 5.5262e-05
HI : .
TS : .
DDD_HI_percent : 51.51
ACMG : .
ExAC_cnvZ : 0.777504753844405
ExAC_delZ : 0.410731542182645
ExAC_dupZ : 0.760717332579163
ExAC_synZ : 0.0138309289809139
ExAC_misZ : 0.338111838370488
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 50511
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_005268922
Tx_version : 6
Tx_start : 101728647
Tx_end : 101739462
Exon_count : 8
Overlapped_tx_length : 10815
Overlapped_CDS_length : 729
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101728647
Intersect_end : 101739462
604759; OMIM_ID : 604759;
OMIM_phenotype : Pregnancy loss, recurrent, 4, 270960 (3) AD;
Spermatogenic failure 4, 270960 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:101728648-101739462P_loss_coord : 12:101728648-101739462
P_loss_source : morbid:SYCP3
P_loss_phen : Pregnancy loss, recurrent, 4, 270960 (3) AD; Spermatogenic failure 4, 270960 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AAASGene_name : AAAS;
LOEUF_bin : 5
GnomAD_pLI : 2.4356e-13
ExAC_pLI : 4.5429e-10
HI : .
TS : .
DDD_HI_percent : 41.47
ACMG : .
ExAC_cnvZ : -0.554664506697577
ExAC_delZ : -0.0332104949181626
ExAC_dupZ : -0.834987294710156
ExAC_synZ : -0.227456160480549
ExAC_misZ : -0.684115256864371
GenCC_disease : triple-A syndrome
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 11062474; 11159947; 11159947[PMID]_20674935[PMID]_11815731[PMID]; 11701718; 12752575; 15173230; 18628786; 20051279; 21656342; 26300845; 29180348
NCBI_gene_ID : 8086
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_015665
Tx_version : 6
Tx_start : 53307459
Tx_end : 53321610
Exon_count : 16
Overlapped_tx_length : 14151
Overlapped_CDS_length : 1641
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53307459
Intersect_end : 53321610
605378; OMIM_ID : 605378;
OMIM_phenotype : Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:53307460-53321610; 12:53320546-53321465P_loss_coord : 12:53307460-53321610; 12:53320546-53321465
P_loss_source : dbVar:nssv18791333; morbid:AAAS
P_loss_phen : Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AR
P_loss_hpo : .
41P_snvindel_nb : 41
P_snvindel_phen : Achalasia-alacrima_syndrome; Babinski_sign; Glucocorticoid_deficiency_with_achalasia; Hyperreflexia; Inborn_genetic_diseases; Neurodevelopmental_disorder; Spastic_paraparesis
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ADGRD1Gene_name : ADGRD1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 82.17
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283383
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_001330497
Tx_version : 2
Tx_start : 130953906
Tx_end : 131141469
Exon_count : 26
Overlapped_tx_length : 187563
Overlapped_CDS_length : 2721
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130953906
Intersect_end : 131141469
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4267Exomiser_gene_pheno_score : 0.4267
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT72Gene_name : KRT72;
LOEUF_bin : 7
GnomAD_pLI : 1.3674e-11
ExAC_pLI : 3.0692e-05
HI : .
TS : .
DDD_HI_percent : 64.75
ACMG : .
ExAC_cnvZ : 1.47792200695946
ExAC_delZ : 1.02118748246623
ExAC_dupZ : 1.30412100422346
ExAC_synZ : 0.710846512354789
ExAC_misZ : 0.110466339817287
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140807
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001146225
Tx_version : 2
Tx_start : 52585588
Tx_end : 52601463
Exon_count : 10
Overlapped_tx_length : 15875
Overlapped_CDS_length : 1536
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52585588
Intersect_end : 52601463
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TAC3Gene_name : TAC3;
LOEUF_bin : 6
GnomAD_pLI : 1.1650e-02
ExAC_pLI : 4.0450e-02
HI : .
TS : .
DDD_HI_percent : 56.85
ACMG : .
ExAC_cnvZ : 1.07913303959548
ExAC_delZ : 0.606391284499162
ExAC_dupZ : 0.94244998393439
ExAC_synZ : -0.0706239446733496
ExAC_misZ : 1.04773819952524
GenCC_disease : hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 10 with or without anosmia; hypogonadotropic hypogonadism 7 with or without anosmia
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 19079066; 19079066[PMID]; 20194706; 20332248; 250558; 25077900; 282832; 282842; 29419413; 3712828
NCBI_gene_ID : 6866
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_013251
Tx_version : 4
Tx_start : 57009999
Tx_end : 57016529
Exon_count : 7
Overlapped_tx_length : 6530
Overlapped_CDS_length : 366
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57009999
Intersect_end : 57016529
162330; OMIM_ID : 162330;
OMIM_phenotype : Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:57010000-57016529P_loss_coord : 12:57010000-57016529
P_loss_source : morbid:TAC3
P_loss_phen : Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SUOXGene_name : SUOX;
LOEUF_bin : 6
GnomAD_pLI : 9.3990e-07
ExAC_pLI : 2.0848e-03
HI : .
TS : .
DDD_HI_percent : 49.58
ACMG : .
ExAC_cnvZ : 0.677460730064477
ExAC_delZ : 0.275191884454461
ExAC_dupZ : 0.595595203282938
ExAC_synZ : 0.674006296074996
ExAC_misZ : -0.443832879747659
GenCC_disease : isolated sulfite oxidase deficiency
GenCC_moi : AR
GenCC_classification : Definitive; Strong
GenCC_pmid : 1.59164E+15; 11825068; 12112661; 1212661; 12368985; 15952210; 27289259; 33405344; 34025712; 34117075; 9428520; 9600976
NCBI_gene_ID : 6821
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_000456
Tx_version : 3
Tx_start : 55997275
Tx_end : 56005525
Exon_count : 6
Overlapped_tx_length : 8250
Overlapped_CDS_length : 1638
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55997275
Intersect_end : 56005525
606887; OMIM_ID : 606887;
OMIM_phenotype : Sulfite oxidase deficiency, 272300 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:55997276-56005525; 12:56002223-56002740P_loss_coord : 12:55997276-56005525; 12:56002223-56002740
P_loss_source : dbVar:nssv18789227; morbid:SUOX
P_loss_phen : Sulfite oxidase deficiency, 272300 (3) AR
P_loss_hpo : .
33P_snvindel_nb : 33
P_snvindel_phen : Inborn_genetic_diseases; SUOX-related_condition; Sulfite_oxidase_deficiency; Sulfocysteinuria
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ISCUGene_name : ISCU;
LOEUF_bin : 6
GnomAD_pLI : 4.1463e-02
ExAC_pLI : 1.3595e-01
HI : .
TS : .
DDD_HI_percent : 34.21
ACMG : .
ExAC_cnvZ : 1.16174656972633
ExAC_delZ : 0.712333192651831
ExAC_dupZ : 0.982675681352475
ExAC_synZ : -0.0855354320015334
ExAC_misZ : 0.847083583925693
GenCC_disease : hereditary myopathy with lactic acidosis due to ISCU deficiency
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 18296749; 18304497; 19567699; 20206689; 20301757[PMID]; 7616539
NCBI_gene_ID : 23479
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_213595
Tx_version : 4
Tx_start : 108562595
Tx_end : 108569368
Exon_count : 5
Overlapped_tx_length : 6773
Overlapped_CDS_length : 504
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108562595
Intersect_end : 108569368
611911; OMIM_ID : 611911;
OMIM_phenotype : Myopathy with lactic acidosis, hereditary, 255125 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Hereditary_myopathy_with_lactic_acidosis_due_to_ISCU_deficiency
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT3Gene_name : KRT3;
LOEUF_bin : 6
GnomAD_pLI : 8.9951e-10
ExAC_pLI : 1.9269e-06
HI : .
TS : .
DDD_HI_percent : 65.41
ACMG : .
ExAC_cnvZ : 0.607104233461275
ExAC_delZ : -0.257035076739753
ExAC_dupZ : 1.03197486752732
ExAC_synZ : -0.948550901634449
ExAC_misZ : -0.280345243429276
GenCC_disease : Meesmann corneal dystrophy; corneal dystrophy, Meesmann, 1
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 16227835; 18806880; 19337156; 21176769; 26788030; 9171831; 9171831[PMID]
NCBI_gene_ID : 3850
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_057088
Tx_version : 3
Tx_start : 52789684
Tx_end : 52796117
Exon_count : 9
Overlapped_tx_length : 6433
Overlapped_CDS_length : 1887
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52789684
Intersect_end : 52796117
148043; OMIM_ID : 148043;
OMIM_phenotype : Meesmann corneal dystrophy 2, 618767 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.05
.RE_gene : .
12:52789685-52796117P_loss_coord : 12:52789685-52796117
P_loss_source : morbid:KRT3
P_loss_phen : Meesmann corneal dystrophy 2, 618767 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TCHPGene_name : TCHP;
LOEUF_bin : 5
GnomAD_pLI : 1.8026e-16
ExAC_pLI : 6.9963e-12
HI : .
TS : .
DDD_HI_percent : 64.69
ACMG : .
ExAC_cnvZ : -0.858114421911949
ExAC_delZ : -0.0688441185735911
ExAC_dupZ : -1.17095047705428
ExAC_synZ : 0.125612578144867
ExAC_misZ : -0.990884879990868
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84260
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538837
Tx_version : 2
Tx_start : 109880666
Tx_end : 109918069
Exon_count : 13
Overlapped_tx_length : 37403
Overlapped_CDS_length : 1497
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109880666
Intersect_end : 109918069
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3445Exomiser_gene_pheno_score : 0.3445
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal incisor morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IL31Gene_name : IL31;
LOEUF_bin : 8
GnomAD_pLI : 1.1445e-02
ExAC_pLI : 1.5089e-01
HI : .
TS : .
DDD_HI_percent : 99.99
ACMG : .
ExAC_cnvZ : 0.291234491646904
ExAC_delZ : -0.120299441284811
ExAC_dupZ : 0.404836579890964
ExAC_synZ : -0.583032537365494
ExAC_misZ : 0.860284983722483
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 386653
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001014336
Tx_version : 2
Tx_start : 122172028
Tx_end : 122174221
Exon_count : 3
Overlapped_tx_length : 2193
Overlapped_CDS_length : 495
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122172028
Intersect_end : 122174221
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3844Exomiser_gene_pheno_score : 0.3844
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; short tibia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM116Gene_name : TMEM116;
LOEUF_bin : 7
GnomAD_pLI : 5.1196e-13
ExAC_pLI : 1.1500e-09
HI : .
TS : .
DDD_HI_percent : 50.38
ACMG : .
ExAC_cnvZ : 0.781030625123213
ExAC_delZ : 0.649409065469972
ExAC_dupZ : 0.559755897569141
ExAC_synZ : 0.396189111400266
ExAC_misZ : -0.0926580560196667
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 89894
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001193531
Tx_version : 2
Tx_start : 111931297
Tx_end : 112013165
Exon_count : 11
Overlapped_tx_length : 81868
Overlapped_CDS_length : 1014
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111931297
Intersect_end : 112013165
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3688Exomiser_gene_pheno_score : 0.3688
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MMP19Gene_name : MMP19;
LOEUF_bin : 7
GnomAD_pLI : 1.9975e-20
ExAC_pLI : 1.4538e-13
HI : .
TS : .
DDD_HI_percent : 52.42
ACMG : .
ExAC_cnvZ : 0.917524245534023
ExAC_delZ : 0.243175944821243
ExAC_dupZ : 1.06712693994153
ExAC_synZ : -0.127482649920694
ExAC_misZ : -0.643047820883694
GenCC_disease : familial cavitary optic disk anomaly
GenCC_moi : AD
GenCC_classification : Limited; Supportive
GenCC_pmid : 25581579[PMID]
NCBI_gene_ID : 4327
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_002429
Tx_version : 6
Tx_start : 55835432
Tx_end : 55842936
Exon_count : 9
Overlapped_tx_length : 7504
Overlapped_CDS_length : 1527
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55835432
Intersect_end : 55842936
601807; OMIM_ID : 601807;
OMIM_phenotype : Cavitary optic disc anomalies, 611543 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.06
.RE_gene : .
12:55835433-55842936P_loss_coord : 12:55835433-55842936
P_loss_source : morbid:MMP19
P_loss_phen : Cavitary optic disc anomalies, 611543 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
YARS2Gene_name : YARS2;
LOEUF_bin : 7
GnomAD_pLI : 3.0025e-11
ExAC_pLI : 6.8842e-06
HI : .
TS : .
DDD_HI_percent : 44.97
ACMG : .
ExAC_cnvZ : 0.110638369246966
ExAC_delZ : -1.03313325580563
ExAC_dupZ : 0.975465705906767
ExAC_synZ : 1.38890082589152
ExAC_misZ : 2.12220191880852
GenCC_disease : myopathy, lactic acidosis, and sideroblastic anemia; myopathy, lactic acidosis, and sideroblastic anemia 2
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 121040; 20598274; 20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID]; 23918765; 24344687; 25638461; 26647310; 26944241; 30026338
NCBI_gene_ID : 51067
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001040436
Tx_version : 3
Tx_start : 32746543
Tx_end : 32755897
Exon_count : 5
Overlapped_tx_length : 9354
Overlapped_CDS_length : 1434
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32746543
Intersect_end : 32755897
610957; OMIM_ID : 610957;
OMIM_phenotype : Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:32746544-32755897P_loss_coord : 12:32746544-32755897
P_loss_source : morbid:YARS2
P_loss_phen : Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) AR
P_loss_hpo : .
14P_snvindel_nb : 14
P_snvindel_phen : Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_2
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRPHGene_name : PRPH;
LOEUF_bin : 7
GnomAD_pLI : 4.7898e-14
ExAC_pLI : 5.0458e-10
HI : .
TS : .
DDD_HI_percent : 10.24
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.576315929741481
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.97128753520279
ExAC_misZ : 2.59501060169631
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 5630
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_006262
Tx_version : 4
Tx_start : 49295146
Tx_end : 49298686
Exon_count : 9
Overlapped_tx_length : 3540
Overlapped_CDS_length : 1413
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49295146
Intersect_end : 49298686
170710; OMIM_ID : 170710;
OMIM_phenotype : (Amyotrophic lateral sclerosis, susceptibility to), 105400 (3) AR,AD;
OMIM_inheritance : AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:49295147-49298686P_loss_coord : 12:49295147-49298686
P_loss_source : morbid:PRPH
P_loss_phen : Amyotrophic lateral sclerosis, susceptibility to, 105400 (3) AR,AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DIABLOGene_name : DIABLO;
LOEUF_bin : 7
GnomAD_pLI : 2.5722e-06
ExAC_pLI : 8.8996e-04
HI : .
TS : .
DDD_HI_percent : 16.32
ACMG : .
ExAC_cnvZ : 1.0543444986065
ExAC_delZ : 0.61613836735255
ExAC_dupZ : 0.891653489950639
ExAC_synZ : -1.10466126537821
ExAC_misZ : -0.846583689183292
GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 64; nonsyndromic genetic hearing loss
GenCC_moi : AD
GenCC_classification : Limited; Moderate; Supportive
GenCC_pmid : 10929711; 11971981; 21722859; 21722859[PMID]_24148127[PMID]; 250906; 26969326
NCBI_gene_ID : 56616
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_019887
Tx_version : 6
Tx_start : 122207667
Tx_end : 122227456
Exon_count : 7
Overlapped_tx_length : 19789
Overlapped_CDS_length : 720
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122207667
Intersect_end : 122227456
605219; OMIM_ID : 605219;
OMIM_phenotype : Deafness, AD 64, 614152 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:122207668-122227456P_loss_coord : 12:122207668-122227456
P_loss_source : morbid:DIABLO
P_loss_phen : Deafness, AD 64, 614152 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CFAP54Gene_name : CFAP54;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 64.67
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144535
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001367885
Tx_version : 1
Tx_start : 96489576
Tx_end : 96875555
Exon_count : 69
Overlapped_tx_length : 385979
Overlapped_CDS_length : 9486
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96489576
Intersect_end : 96875555
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4050Exomiser_gene_pheno_score : 0.4050
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; domed cranium
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
METTL25Gene_name : METTL25;
LOEUF_bin : 5
GnomAD_pLI : 9.1880e-13
ExAC_pLI : 1.6483e-07
HI : .
TS : .
DDD_HI_percent : 51.47
ACMG : .
ExAC_cnvZ : -0.949310786237117
ExAC_delZ : -1.23077806561195
ExAC_dupZ : -0.779608399143751
ExAC_synZ : -0.380821376192136
ExAC_misZ : -2.05758681945015
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84190
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_032230
Tx_version : 3
Tx_start : 82358528
Tx_end : 82479239
Exon_count : 12
Overlapped_tx_length : 120711
Overlapped_CDS_length : 1812
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 82358528
Intersect_end : 82479239
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NDUFA12Gene_name : NDUFA12;
LOEUF_bin : 8
GnomAD_pLI : 7.4270e-05
ExAC_pLI : 2.0160e-03
HI : .
TS : .
DDD_HI_percent : 38.84
ACMG : .
ExAC_cnvZ : 0.30421492141188
ExAC_delZ : -0.639741332819543
ExAC_dupZ : 0.952828241320044
ExAC_synZ : -0.342180815805514
ExAC_misZ : 0.628827017277609
GenCC_disease : Leigh syndrome; Leigh syndrome with leukodystrophy; mitochondrial complex 1 deficiency, nuclear type 23
GenCC_moi : AR
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 21617257; 21617257[PMID]_22644603[PMID]; 28454995; 30369941; 33715266
NCBI_gene_ID : 55967
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_018838
Tx_version : 5
Tx_start : 94971332
Tx_end : 95003697
Exon_count : 4
Overlapped_tx_length : 32365
Overlapped_CDS_length : 438
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94971332
Intersect_end : 95003697
614530; OMIM_ID : 614530;
OMIM_phenotype : Mitochondrial complex I deficiency, nuclear type 23, 618244 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:94971333-95003697P_loss_coord : 12:94971333-95003697
P_loss_source : morbid:NDUFA12
P_loss_phen : Mitochondrial complex I deficiency, nuclear type 23, 618244 (3) AR
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : Mitochondrial_complex_1_deficiency,_nuclear_type_23
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
COX6A1Gene_name : COX6A1;
LOEUF_bin : 8
GnomAD_pLI : 2.3136e-03
ExAC_pLI : 6.0958e-02
HI : .
TS : .
DDD_HI_percent : 58.13
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.335311496838852
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.430375314989234
ExAC_misZ : -0.334692764357589
GenCC_disease : Charcot-Marie-Tooth disease recessive intermediate D
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 10546875; 25152455; 25152455[PMID]; 26302975; 27549087
NCBI_gene_ID : 1337
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_004373
Tx_version : 4
Tx_start : 120438112
Tx_end : 120440730
Exon_count : 3
Overlapped_tx_length : 2618
Overlapped_CDS_length : 330
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120438112
Intersect_end : 120440730
602072; OMIM_ID : 602072;
OMIM_phenotype : Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:120438113-120440730P_loss_coord : 12:120438113-120440730
P_loss_source : morbid:COX6A1
P_loss_phen : Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Charcot-Marie-Tooth_disease_recessive_intermediate_D
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AQP2Gene_name : AQP2;
LOEUF_bin : 8
GnomAD_pLI : 2.4855e-06
ExAC_pLI : 4.1770e-06
HI : .
TS : .
DDD_HI_percent : 42.24
ACMG : .
ExAC_cnvZ : 0.550901477986804
ExAC_delZ : 0.158850544975308
ExAC_dupZ : 0.660716475304841
ExAC_synZ : -0.224103452916141
ExAC_misZ : 1.61936783201938
GenCC_disease : diabetes insipidus, nephrogenic, autosomal; nephrogenic diabetes insipidus
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 11536078; 11929850; 12191971; 14599123; 16120822; 19585583; 20301356; 20301356[PMID]; 22427315; 23150186; 23409988; 26714855; 27156763; 9024277; 9402087; 9649557
NCBI_gene_ID : 359
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_000486
Tx_version : 6
Tx_start : 49950736
Tx_end : 49958878
Exon_count : 4
Overlapped_tx_length : 8142
Overlapped_CDS_length : 816
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49950736
Intersect_end : 49958878
107777; OMIM_ID : 107777;
OMIM_phenotype : Diabetes insipidus, nephrogenic, 2, 125800 (3) AR,AD;
OMIM_inheritance : AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:49950737-49958878; 12:49954146-49955618P_loss_coord : 12:49950737-49958878; 12:49954146-49955618
P_loss_source : dbVar:nssv17172242; morbid:AQP2
P_loss_phen : Diabetes insipidus, nephrogenic, 2, 125800 (3) AR,AD
P_loss_hpo : .
28P_snvindel_nb : 28
P_snvindel_phen : Diabetes_insipidus,_nephrogenic,_autosomal; Nephrogenic_diabetes_insipidus
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GATCGene_name : GATC;
LOEUF_bin : 8
GnomAD_pLI : 6.5888e-04
ExAC_pLI : 7.7902e-05
HI : .
TS : .
DDD_HI_percent : 55.41
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.158357140403191
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.06731644959735
ExAC_misZ : 1.25543038036296
GenCC_disease : combined oxidative phosphorylation deficiency 42
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 30283131
NCBI_gene_ID : 283459
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_176818
Tx_version : 3
Tx_start : 120446443
Tx_end : 120463749
Exon_count : 4
Overlapped_tx_length : 17306
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120446443
Intersect_end : 120463749
617210; OMIM_ID : 617210;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 42, 618839 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:120446444-120463749P_loss_coord : 12:120446444-120463749
P_loss_source : morbid:GATC
P_loss_phen : Combined oxidative phosphorylation deficiency 42, 618839 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Cardiomyopathy,_mitochondrial; Combined_oxidative_phosphorylation_deficiency_42
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AQP6Gene_name : AQP6;
LOEUF_bin : 6
GnomAD_pLI : 1.5875e-02
ExAC_pLI : 2.1143e-01
HI : .
TS : .
DDD_HI_percent : 68.48
ACMG : .
ExAC_cnvZ : 0.951335139847982
ExAC_delZ : 0.826663214920356
ExAC_dupZ : 0.757183536447526
ExAC_synZ : -0.229996550020032
ExAC_misZ : 0.588797914847922
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 363
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001652
Tx_version : 4
Tx_start : 49972946
Tx_end : 49977139
Exon_count : 4
Overlapped_tx_length : 4193
Overlapped_CDS_length : 849
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49972946
Intersect_end : 49977139
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3409Exomiser_gene_pheno_score : 0.3409
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased total retina thickness
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP5MC2Gene_name : ATP5MC2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 517
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001002031
Tx_version : 4
Tx_start : 53665169
Tx_end : 53676330
Exon_count : 5
Overlapped_tx_length : 11161
Overlapped_CDS_length : 474
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53665169
Intersect_end : 53676330
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3992Exomiser_gene_pheno_score : 0.3992
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLIPR1Gene_name : GLIPR1;
LOEUF_bin : 8
GnomAD_pLI : 2.0720e-14
ExAC_pLI : 1.0518e-09
HI : .
TS : .
DDD_HI_percent : 82.79
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.767281665212611
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.15982532999833
ExAC_misZ : -0.121832188100921
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11010
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_006851
Tx_version : 3
Tx_start : 75480754
Tx_end : 75503863
Exon_count : 6
Overlapped_tx_length : 23109
Overlapped_CDS_length : 801
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75480754
Intersect_end : 75503863
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3688Exomiser_gene_pheno_score : 0.3688
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal vitreous body morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ENDOUGene_name : ENDOU;
LOEUF_bin : 7
GnomAD_pLI : 3.2354e-14
ExAC_pLI : 6.2232e-12
HI : .
TS : .
DDD_HI_percent : 54.47
ACMG : .
ExAC_cnvZ : 0.927613374506759
ExAC_delZ : 0.249867666771578
ExAC_dupZ : 1.07533267706167
ExAC_synZ : 0.205677609334501
ExAC_misZ : -0.100514579559302
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8909
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001172439
Tx_version : 2
Tx_start : 47709733
Tx_end : 47725490
Exon_count : 10
Overlapped_tx_length : 15757
Overlapped_CDS_length : 1233
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47709733
Intersect_end : 47725490
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3482Exomiser_gene_pheno_score : 0.3482
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ASB8Gene_name : ASB8;
LOEUF_bin : 7
GnomAD_pLI : 3.7670e-05
ExAC_pLI : 1.8029e-02
HI : .
TS : .
DDD_HI_percent : 25.56
ACMG : .
ExAC_cnvZ : 0.485500931525332
ExAC_delZ : -0.193436921523648
ExAC_dupZ : 0.706896405462293
ExAC_synZ : 0.330745872965905
ExAC_misZ : 1.28001788412435
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140461
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001319296
Tx_version : 2
Tx_start : 48147788
Tx_end : 48157515
Exon_count : 5
Overlapped_tx_length : 9727
Overlapped_CDS_length : 867
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48147788
Intersect_end : 48157515
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3580Exomiser_gene_pheno_score : 0.3580
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased total retina thickness
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT6CGene_name : KRT6C;
LOEUF_bin : 9
GnomAD_pLI : 3.8079e-22
ExAC_pLI : 4.1052e-12
HI : .
TS : .
DDD_HI_percent : 78.64
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.90306070526585
ExAC_misZ : 1.70994579925571
GenCC_disease : palmoplantar keratoderma, nonepidermolytic, focal or diffuse
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 19609311; 21801157; 21801157[PMID]_19609311[PMID]; 23662636; 26301947; 31823354
NCBI_gene_ID : 3853
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_173086
Tx_version : 5
Tx_start : 52468515
Tx_end : 52473805
Exon_count : 9
Overlapped_tx_length : 5290
Overlapped_CDS_length : 1695
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52468515
Intersect_end : 52473805
612315; OMIM_ID : 612315;
OMIM_phenotype : Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:52468516-52473805P_loss_coord : 12:52468516-52473805
P_loss_source : morbid:KRT6C
P_loss_phen : Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3) AD
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Palmoplantar_keratoderma,_nonepidermolytic,_focal_or_diffuse
dbVarB_loss_source : dbVar
B_loss_coord : chr12:52450755-52475085
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WASHC3Gene_name : WASHC3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51019
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_016053
Tx_version : 4
Tx_start : 102012839
Tx_end : 102061991
Exon_count : 7
Overlapped_tx_length : 49152
Overlapped_CDS_length : 585
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102012839
Intersect_end : 102061991
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NEMP1Gene_name : NEMP1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23306
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_011538056
Tx_version : 3
Tx_start : 57055642
Tx_end : 57088627
Exon_count : 9
Overlapped_tx_length : 32985
Overlapped_CDS_length : 1479
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57055642
Intersect_end : 57088627
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RESF1Gene_name : RESF1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55196
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_018169
Tx_version : 4
Tx_start : 31959414
Tx_end : 31993107
Exon_count : 6
Overlapped_tx_length : 33693
Overlapped_CDS_length : 5244
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31959414
Intersect_end : 31993107
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DBX2Gene_name : DBX2;
LOEUF_bin : 7
GnomAD_pLI : 6.0563e-06
ExAC_pLI : 4.4184e-08
HI : .
TS : .
DDD_HI_percent : 58.99
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.167592780560724
ExAC_misZ : 0.272081952659378
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440097
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001004329
Tx_version : 3
Tx_start : 45014671
Tx_end : 45051099
Exon_count : 4
Overlapped_tx_length : 36428
Overlapped_CDS_length : 1020
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45014671
Intersect_end : 45051099
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3407Exomiser_gene_pheno_score : 0.3407
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal bone structure
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PMCHGene_name : PMCH;
LOEUF_bin : 6
GnomAD_pLI : 1.1486e-01
ExAC_pLI : 1.1529e-01
HI : .
TS : .
DDD_HI_percent : 12.53
ACMG : .
ExAC_cnvZ : 0.418012676788732
ExAC_delZ : 0.305147527820776
ExAC_dupZ : 0.333499259512901
ExAC_synZ : -1.11308426236007
ExAC_misZ : -0.951359829275965
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5367
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_002674
Tx_version : 4
Tx_start : 102196458
Tx_end : 102197833
Exon_count : 3
Overlapped_tx_length : 1375
Overlapped_CDS_length : 498
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102196458
Intersect_end : 102197833
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:102057222-102377222
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BICDL1Gene_name : BICDL1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 92558
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : XM_006719694
Tx_version : 4
Tx_start : 119989235
Tx_end : 120094495
Exon_count : 11
Overlapped_tx_length : 105260
Overlapped_CDS_length : 1878
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119989235
Intersect_end : 120094495
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3844Exomiser_gene_pheno_score : 0.3844
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; short tibia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZNF385AGene_name : ZNF385A;
LOEUF_bin : 2
GnomAD_pLI : 2.7980e-01
ExAC_pLI : 8.4855e-01
HI : .
TS : .
DDD_HI_percent : 43.8
ACMG : .
ExAC_cnvZ : 0.925944983140224
ExAC_delZ : 0.456809310403131
ExAC_dupZ : 0.830192144203722
ExAC_synZ : 0.505759081971224
ExAC_misZ : 2.22898774435203
GenCC_disease : Tourette syndrome
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : 28472652
NCBI_gene_ID : 25946
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_011538168
Tx_version : 3
Tx_start : 54369135
Tx_end : 54391298
Exon_count : 9
Overlapped_tx_length : 22163
Overlapped_CDS_length : 1260
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54369135
Intersect_end : 54391298
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.2740Exomiser_gene_pheno_score : 0.2740
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal megakaryocyte morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CEP83Gene_name : CEP83;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 24.79
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : nephronophthisis 18; nephronophthisis 2
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 23530209; 24882706; 24882706[PMID]
NCBI_gene_ID : 51134
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : XM_047428923
Tx_version : 1
Tx_start : 94265661
Tx_end : 94459867
Exon_count : 17
Overlapped_tx_length : 194206
Overlapped_CDS_length : 2106
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94265661
Intersect_end : 94459867
615847; OMIM_ID : 615847;
OMIM_phenotype : Nephronophthisis 18, 615862 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:94400831-94412490P_loss_coord : 12:94400831-94412490
P_loss_source : dbVar:nssv18786794
P_loss_phen : .
P_loss_hpo : .
30P_snvindel_nb : 30
P_snvindel_phen : Nephronophthisis; Nephronophthisis_18
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WASHC4Gene_name : WASHC4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 43; schizophrenia
GenCC_moi : AR
GenCC_classification : Limited; No Known Disease Relationship; Supportive
GenCC_pmid : 21498477[PMID]; 27694994
NCBI_gene_ID : 23325
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001293640
Tx_version : 2
Tx_start : 105107730
Tx_end : 105169130
Exon_count : 33
Overlapped_tx_length : 61400
Overlapped_CDS_length : 3525
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105107730
Intersect_end : 105169130
615748; OMIM_ID : 615748;
OMIM_phenotype : Intellectual developmental disorder, AR 43, 615817 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
12:105118480-105169130P_loss_coord : 12:105118480-105169130
P_loss_source : morbid:WASHC4
P_loss_phen : Intellectual developmental disorder, AR 43, 615817 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RXYLT1Gene_name : RXYLT1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : muscle-eye-brain disease; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10; muscular dystrophy-dystroglycanopathy, type A
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 23217329; 23217329[PMID]_23519211[PMID]; 23519211
NCBI_gene_ID : 10329
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_014254
Tx_version : 3
Tx_start : 63779908
Tx_end : 63809562
Exon_count : 6
Overlapped_tx_length : 29654
Overlapped_CDS_length : 1332
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63779908
Intersect_end : 63809562
605862; OMIM_ID : 605862;
OMIM_phenotype : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:63782541-63809562P_loss_coord : 12:63782541-63809562
P_loss_source : morbid:RXYLT1
P_loss_phen : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) AR
P_loss_hpo : .
25P_snvindel_nb : 25
P_snvindel_phen : Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10; Walker-Warburg_congenital_muscular_dystrophy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CFAP251Gene_name : CFAP251;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : non-syndromic male infertility due to sperm motility disorder; spermatogenic failure 33
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 30122540; 30122540[PMID]; 30122541; 30310178
NCBI_gene_ID : 144406
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_144668
Tx_version : 6
Tx_start : 121918591
Tx_end : 122003919
Exon_count : 22
Overlapped_tx_length : 85328
Overlapped_CDS_length : 3450
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121918591
Intersect_end : 122003919
618146; OMIM_ID : 618146;
OMIM_phenotype : Spermatogenic failure 33, 618152 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
12:121918592-122003919; 12:121994802-122002722P_loss_coord : 12:121918592-122003919; 12:121994802-122002722
P_loss_source : dbVar:nssv16596335; nssv16596345; morbid:CFAP251
P_loss_phen : Spermatogenic failure 33, 618152 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : CFAP251-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MTRFRGene_name : MTRFR;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Leigh syndrome; combined oxidative phosphorylation defect type 7
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong
GenCC_pmid : 18853439; 20598281; 22821833; 23188110; 24080142; 24198383; 24284555; 24424123; 25995486; 26380172; 27858754; 27977873
NCBI_gene_ID : 91574
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_047429877
Tx_version : 1
Tx_start : 123232913
Tx_end : 123257960
Exon_count : 3
Overlapped_tx_length : 25047
Overlapped_CDS_length : 501
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123232913
Intersect_end : 123257960
613541; OMIM_ID : 613541;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 7, 613559 (3) AR;
Spastic paraplegia 55, AR, 615035 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
12:123242628-123257960; 12:123252158-12325584[...]P_loss_coord : 12:123242628-123257960; 12:123252158-123255846; 12:123252159-123255845; 12:123253675-123253956; 12:123253676-123253956; 12:123256794-123257031
P_loss_source : CLN:623680; dbVar:nssv15755140; dbVar:nssv16207668; dbVar:nssv16216512; dbVar:nssv18790025; morbid:MTRFR
P_loss_phen : Combined oxidative phosphorylation deficiency 7, 613559 (3) AR; Spastic paraplegia 55, AR, 615035 (3) AR; Neurodevelopmental_disorder
P_loss_hpo : .
10P_snvindel_nb : 10
P_snvindel_phen : Abnormal_brain_morphology; Combined_oxidative_phosphorylation_defect_type_7; Epileptic_encephalopathy; Hereditary_spastic_paraplegia_55; Spastic_paraplegia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SMAGPGene_name : SMAGP;
LOEUF_bin : 7
GnomAD_pLI : 2.5441e-01
ExAC_pLI : 4.5175e-02
HI : .
TS : .
DDD_HI_percent : 39.48
ACMG : .
ExAC_cnvZ : 0.739166126957067
ExAC_delZ : 0.585566111726125
ExAC_dupZ : 0.585505599943564
ExAC_synZ : -0.154467649364699
ExAC_misZ : -0.617542889503422
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57228
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001031628
Tx_version : 2
Tx_start : 51244557
Tx_end : 51270415
Exon_count : 4
Overlapped_tx_length : 25858
Overlapped_CDS_length : 294
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51244557
Intersect_end : 51270415
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3374Exomiser_gene_pheno_score : 0.3374
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina outer nuclear layer morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PA2G4Gene_name : PA2G4;
LOEUF_bin : 0
GnomAD_pLI : 9.9876e-01
ExAC_pLI : 9.9800e-01
HI : .
TS : .
DDD_HI_percent : 3.25
ACMG : .
ExAC_cnvZ : 1.53090036516443
ExAC_delZ : 1.0872516677678
ExAC_dupZ : 1.2973466879816
ExAC_synZ : 1.34868170216625
ExAC_misZ : 3.91733701344324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5036
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_006191
Tx_version : 3
Tx_start : 56104558
Tx_end : 56113910
Exon_count : 13
Overlapped_tx_length : 9352
Overlapped_CDS_length : 1185
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56104558
Intersect_end : 56113910
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.2418Exomiser_gene_pheno_score : 0.2418
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; kinked tail
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PMELGene_name : PMEL;
LOEUF_bin : 7
GnomAD_pLI : 3.0571e-18
ExAC_pLI : 1.1236e-07
HI : .
TS : .
DDD_HI_percent : 43.54
ACMG : .
ExAC_cnvZ : 0.755677372686922
ExAC_delZ : 0.151648185345064
ExAC_dupZ : 0.980163611937405
ExAC_synZ : -1.25408397060279
ExAC_misZ : -0.305744637971398
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6490
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001200054
Tx_version : 1
Tx_start : 55954104
Tx_end : 55966062
Exon_count : 11
Overlapped_tx_length : 11958
Overlapped_CDS_length : 2007
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55954104
Intersect_end : 55966062
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3235Exomiser_gene_pheno_score : 0.3235
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina melanin granule morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMED2Gene_name : TMED2;
LOEUF_bin : 1
GnomAD_pLI : 8.9231e-01
ExAC_pLI : 7.9768e-01
HI : .
TS : .
DDD_HI_percent : 22.43
ACMG : .
ExAC_cnvZ : 0.598964679824532
ExAC_delZ : 0.454372397849926
ExAC_dupZ : 0.419767192978245
ExAC_synZ : 0.28879163546412
ExAC_misZ : 2.45289414754546
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10959
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001321445
Tx_version : 2
Tx_start : 123584551
Tx_end : 123598582
Exon_count : 5
Overlapped_tx_length : 14031
Overlapped_CDS_length : 627
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123584551
Intersect_end : 123598582
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.2290Exomiser_gene_pheno_score : 0.2290
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal tail bud morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLYCAM1Gene_name : GLYCAM1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 644076
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : NR_003039
Tx_version : 3
Tx_start : 54608186
Tx_end : 54610462
Exon_count : 4
Overlapped_tx_length : 2276
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54608186
Intersect_end : 54610462
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3482Exomiser_gene_pheno_score : 0.3482
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SRGAP1Gene_name : SRGAP1;
LOEUF_bin : 0
GnomAD_pLI : 9.9845e-01
ExAC_pLI : 9.8785e-01
HI : .
TS : .
DDD_HI_percent : 24.51
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.37281637800983
ExAC_misZ : 1.40740701047359
GenCC_disease : thyroid cancer, nonmedullary, 2
GenCC_moi : AD
GenCC_classification : No Known Disease Relationship
GenCC_pmid : 23539728
NCBI_gene_ID : 57522
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_020762
Tx_version : 4
Tx_start : 63844699
Tx_end : 64162217
Exon_count : 22
Overlapped_tx_length : 317518
Overlapped_CDS_length : 3258
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63844699
Intersect_end : 64162217
606523; OMIM_ID : 606523;
OMIM_phenotype : (Thyroid cancer, nonmedullary, 2), 188470 (3) Somatic mutation,AD;
OMIM_inheritance : Somatic mutation,AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZCCHC8Gene_name : ZCCHC8;
LOEUF_bin : 1
GnomAD_pLI : 9.6584e-01
ExAC_pLI : 7.7782e-01
HI : .
TS : .
DDD_HI_percent : 60.34
ACMG : .
ExAC_cnvZ : -0.640666890212223
ExAC_delZ : -0.775856378296674
ExAC_dupZ : -0.514662483746992
ExAC_synZ : 0.179474746672569
ExAC_misZ : 1.34620072659443
GenCC_disease : intellectual disability; pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 31488579
NCBI_gene_ID : 55596
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_017612
Tx_version : 5
Tx_start : 122471599
Tx_end : 122500932
Exon_count : 14
Overlapped_tx_length : 29333
Overlapped_CDS_length : 2124
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122471599
Intersect_end : 122500932
616381; OMIM_ID : 616381;
OMIM_phenotype : ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5, 618674 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRRK2Gene_name : LRRK2;
LOEUF_bin : 3
GnomAD_pLI : 2.5757e-30
ExAC_pLI : 7.5565e-14
HI : .
TS : .
DDD_HI_percent : 14.19
ACMG : .
ExAC_cnvZ : -1.37671446826693
ExAC_delZ : -1.75047710148942
ExAC_dupZ : -1.4772475983265
ExAC_synZ : -1.60298268256947
ExAC_misZ : 0.0037875714476121
GenCC_disease : Parkinson disease; autosomal dominant Parkinson disease 8; hereditary late onset Parkinson disease
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15726496; 16251215; 17200152; 17447891; 20457952; 20642453; 22166458[PMID]; 22575234; 26869347
NCBI_gene_ID : 120892
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_198578
Tx_version : 4
Tx_start : 40224996
Tx_end : 40369285
Exon_count : 51
Overlapped_tx_length : 144289
Overlapped_CDS_length : 7584
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40224996
Intersect_end : 40369285
609007; OMIM_ID : 609007;
OMIM_phenotype : (Parkinson disease 8), 607060 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : Autosomal_dominant_Parkinson_disease_8; Inborn_genetic_diseases; LRRK2-related_condition; Parkinson_disease,_late-onset; Young-onset_Parkinson_disease
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CRY1Gene_name : CRY1;
LOEUF_bin : 4
GnomAD_pLI : 1.6620e-09
ExAC_pLI : 4.2428e-07
HI : .
TS : .
DDD_HI_percent : 7.03
ACMG : .
ExAC_cnvZ : 0.852942201895044
ExAC_delZ : 0.015698223366495
ExAC_dupZ : 1.21519406002001
ExAC_synZ : -0.865554003123174
ExAC_misZ : 1.9635090598256
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1407
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001413458
Tx_version : 1
Tx_start : 106991363
Tx_end : 107093549
Exon_count : 13
Overlapped_tx_length : 102186
Overlapped_CDS_length : 1821
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106991363
Intersect_end : 107093549
601933; OMIM_ID : 601933;
OMIM_phenotype : (Delayed sleep phase disorder, susceptibility to), 614163 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
COQ5Gene_name : COQ5;
LOEUF_bin : 5
GnomAD_pLI : 2.8412e-05
ExAC_pLI : 7.9502e-05
HI : .
TS : .
DDD_HI_percent : 34.28
ACMG : .
ExAC_cnvZ : 0.304158155792296
ExAC_delZ : 0.132769107648441
ExAC_dupZ : 0.319757590612837
ExAC_synZ : 0.687253114475326
ExAC_misZ : -0.0961179806392626
GenCC_disease : coenzyme q10 deficiency, primary, 9
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 21937992; 23597238; 29044765; 9083048
NCBI_gene_ID : 84274
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_032314
Tx_version : 4
Tx_start : 120503278
Tx_end : 120529158
Exon_count : 7
Overlapped_tx_length : 25880
Overlapped_CDS_length : 984
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120503278
Intersect_end : 120529158
616359; OMIM_ID : 616359;
OMIM_phenotype : ?Coenzyme Q10 deficiency, primary, 9, 619028 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT71Gene_name : KRT71;
LOEUF_bin : 5
GnomAD_pLI : 9.0110e-07
ExAC_pLI : 3.1274e-08
HI : .
TS : .
DDD_HI_percent : 49.35
ACMG : .
ExAC_cnvZ : 1.81243065952555
ExAC_delZ : 1.38787505504073
ExAC_dupZ : 1.56858603557367
ExAC_synZ : -0.27360291918842
ExAC_misZ : -0.814053816524328
GenCC_disease : hypotrichosis 13; isolated familial wooly hair disorder
GenCC_moi : AD
GenCC_classification : Limited; Supportive
GenCC_pmid : 20346438; 22592156; 22592156[PMID]; 30444027; 30456859
NCBI_gene_ID : 112802
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_033448
Tx_version : 3
Tx_start : 52543908
Tx_end : 52553145
Exon_count : 9
Overlapped_tx_length : 9237
Overlapped_CDS_length : 1572
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52543908
Intersect_end : 52553145
608245; OMIM_ID : 608245;
OMIM_phenotype : ?Hypotrichosis 13, 615896 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYO1HGene_name : MYO1H;
LOEUF_bin : 5
GnomAD_pLI : 2.0646e-25
ExAC_pLI : 2.9161e-17
HI : .
TS : .
DDD_HI_percent : 55.04
ACMG : .
ExAC_cnvZ : -0.0499801737271678
ExAC_delZ : -0.538256932469393
ExAC_dupZ : 0.222125226820794
ExAC_synZ : -0.223336604756845
ExAC_misZ : -1.10954097141219
GenCC_disease : central hypoventilation syndrome, congenital, 2, and autonomic dysfunction; congenital central hypoventilation syndrome
GenCC_moi : AD; AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 28779001; 28779001[PMID]; 30366217
NCBI_gene_ID : 283446
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538223
Tx_version : 3
Tx_start : 109310467
Tx_end : 109448379
Exon_count : 34
Overlapped_tx_length : 137912
Overlapped_CDS_length : 3135
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109310467
Intersect_end : 109448379
614636; OMIM_ID : 614636;
OMIM_phenotype : ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, 619482 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.05
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TIMELESSGene_name : TIMELESS;
LOEUF_bin : 5
GnomAD_pLI : 9.8476e-35
ExAC_pLI : 1.0355e-25
HI : .
TS : .
DDD_HI_percent : 23.36
ACMG : .
ExAC_cnvZ : 0.919722382520402
ExAC_delZ : 1.52205031582123
ExAC_dupZ : 0.446777062165317
ExAC_synZ : -1.09357460637442
ExAC_misZ : -0.66079962508498
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8914
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_003920
Tx_version : 5
Tx_start : 56416362
Tx_end : 56449426
Exon_count : 29
Overlapped_tx_length : 33064
Overlapped_CDS_length : 3627
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56416362
Intersect_end : 56449426
603887; OMIM_ID : 603887;
OMIM_phenotype : ?Advance sleep phase syndrome, familial, 4, 620015 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC62Gene_name : CCDC62;
LOEUF_bin : 6
GnomAD_pLI : 4.3887e-16
ExAC_pLI : 1.4353e-12
HI : .
TS : .
DDD_HI_percent : 69.95
ACMG : .
ExAC_cnvZ : -0.498035422632001
ExAC_delZ : -0.818841512769793
ExAC_dupZ : -0.315768842093673
ExAC_synZ : 0.0440228299461107
ExAC_misZ : 0.623400998418811
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84660
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_201435
Tx_version : 5
Tx_start : 122774571
Tx_end : 122827528
Exon_count : 13
Overlapped_tx_length : 52957
Overlapped_CDS_length : 2055
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122774571
Intersect_end : 122827528
613481; OMIM_ID : 613481;
OMIM_phenotype : ?Spermatogenic failure 67, 619803 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC12Gene_name : HOXC12;
LOEUF_bin : 9
GnomAD_pLI : 2.4299e-09
ExAC_pLI : 1.8910e-09
HI : .
TS : .
DDD_HI_percent : 45.67
ACMG : .
ExAC_cnvZ : 0.776130821076382
ExAC_delZ : 0.346548472030521
ExAC_dupZ : 0.691042601679915
ExAC_synZ : 2.47726381903736
ExAC_misZ : 2.31869643428366
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3228
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_173860
Tx_version : 3
Tx_start : 53954902
Tx_end : 53958956
Exon_count : 2
Overlapped_tx_length : 4054
Overlapped_CDS_length : 849
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53954902
Intersect_end : 53958956
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.2418Exomiser_gene_pheno_score : 0.2418
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; abnormal tail length
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
COX14Gene_name : COX14;
LOEUF_bin : 9
GnomAD_pLI : 3.5730e-01
ExAC_pLI : 1.9325e-01
HI : 30
TS : 0
DDD_HI_percent : 44.4
ACMG : .
ExAC_cnvZ : 1.15289100235254
ExAC_delZ : 0.700702557244614
ExAC_dupZ : 1.02786265499863
ExAC_synZ : -1.1847946336952
ExAC_misZ : -0.408506055208647
GenCC_disease : cytochrome-c oxidase deficiency disease; mitochondrial disease
GenCC_moi : AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 22243966; 22243966[PMID]
NCBI_gene_ID : 84987
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001257133
Tx_version : 2
Tx_start : 50112235
Tx_end : 50120453
Exon_count : 3
Overlapped_tx_length : 8218
Overlapped_CDS_length : 174
Overlapped_CDS_percent : 42
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50112235
Intersect_end : 50120453
614478; OMIM_ID : 614478;
OMIM_phenotype : ?Mitochondrial complex IV deficiency, nuclear type 10, 619053 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DCTN2Gene_name : DCTN2;
LOEUF_bin : 0
GnomAD_pLI : 9.9653e-01
ExAC_pLI : 9.9637e-01
HI : .
TS : .
DDD_HI_percent : 17.06
ACMG : .
ExAC_cnvZ : 0.746723696377135
ExAC_delZ : 0.861677190047208
ExAC_dupZ : 0.470715175219502
ExAC_synZ : -0.349747397524666
ExAC_misZ : 1.76256344162249
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10540
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001348065
Tx_version : 2
Tx_start : 57530050
Tx_end : 57546859
Exon_count : 15
Overlapped_tx_length : 16809
Overlapped_CDS_length : 1341
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57530050
Intersect_end : 57546859
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ESPL1Gene_name : ESPL1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 31.33
ACMG : .
ExAC_cnvZ : 1.05275355758444
ExAC_delZ : 1.4064176448262
ExAC_dupZ : 0.654415413001456
ExAC_synZ : -0.0621167495399135
ExAC_misZ : 4.36364628599714
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9700
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_012291
Tx_version : 5
Tx_start : 53268298
Tx_end : 53293638
Exon_count : 31
Overlapped_tx_length : 25340
Overlapped_CDS_length : 6363
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53268298
Intersect_end : 53293638
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM132BGene_name : TMEM132B;
LOEUF_bin : 0
GnomAD_pLI : 9.9876e-01
ExAC_pLI : 4.5583e-01
HI : .
TS : .
DDD_HI_percent : 65.33
ACMG : .
ExAC_cnvZ : 0.873732646966522
ExAC_delZ : 1.0784750143271
ExAC_dupZ : 0.560330612589067
ExAC_synZ : 0.36052088670746
ExAC_misZ : 0.910909487043497
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 114795
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31-q24.32
Location2 : 5'UTR-3'UTR
Tx : NM_001366854
Tx_version : 1
Tx_start : 125186385
Tx_end : 125662369
Exon_count : 9
Overlapped_tx_length : 475984
Overlapped_CDS_length : 3252
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125186385
Intersect_end : 125662369
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GIT2Gene_name : GIT2;
LOEUF_bin : 0
GnomAD_pLI : 9.9793e-01
ExAC_pLI : 9.7063e-01
HI : .
TS : .
DDD_HI_percent : 25.24
ACMG : .
ExAC_cnvZ : 0.804289662403935
ExAC_delZ : 0.0153606112642817
ExAC_dupZ : 1.19590974781314
ExAC_synZ : 0.434817419989708
ExAC_misZ : 2.51278533032039
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9815
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_057169
Tx_version : 5
Tx_start : 109929803
Tx_end : 109996368
Exon_count : 20
Overlapped_tx_length : 66565
Overlapped_CDS_length : 2280
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109929803
Intersect_end : 109996368
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CPSF6Gene_name : CPSF6;
LOEUF_bin : 0
GnomAD_pLI : 9.9982e-01
ExAC_pLI : 9.9911e-01
HI : .
TS : .
DDD_HI_percent : 9.94
ACMG : .
ExAC_cnvZ : 0.243949161551534
ExAC_delZ : 0.615305429906081
ExAC_dupZ : -0.0557336557271168
ExAC_synZ : -0.14793867721865
ExAC_misZ : 4.46679475741089
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11052
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : XM_005268588
Tx_version : 4
Tx_start : 69239568
Tx_end : 69274358
Exon_count : 11
Overlapped_tx_length : 34790
Overlapped_CDS_length : 1770
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69239568
Intersect_end : 69274358
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RANGene_name : RAN;
LOEUF_bin : 0
GnomAD_pLI : 9.7576e-01
ExAC_pLI : 9.5594e-01
HI : .
TS : .
DDD_HI_percent : 5.03
ACMG : .
ExAC_cnvZ : 0.259836161954423
ExAC_delZ : -0.125015950102238
ExAC_dupZ : 0.405001152440793
ExAC_synZ : -2.1013476341354
ExAC_misZ : 3.81025834655464
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5901
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_006325
Tx_version : 5
Tx_start : 130872065
Tx_end : 130877678
Exon_count : 7
Overlapped_tx_length : 5613
Overlapped_CDS_length : 651
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130872065
Intersect_end : 130877678
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NAP1L1Gene_name : NAP1L1;
LOEUF_bin : 0
GnomAD_pLI : 9.9941e-01
ExAC_pLI : 9.9388e-01
HI : .
TS : .
DDD_HI_percent : 5.15
ACMG : .
ExAC_cnvZ : 1.13101165441946
ExAC_delZ : 0.475592799999931
ExAC_dupZ : 1.21953700852534
ExAC_synZ : 0.950664762521831
ExAC_misZ : 1.60899661599727
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4673
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_004537
Tx_version : 7
Tx_start : 76036584
Tx_end : 76084685
Exon_count : 15
Overlapped_tx_length : 48101
Overlapped_CDS_length : 1176
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76036584
Intersect_end : 76084685
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SBNO1Gene_name : SBNO1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 21.06
ACMG : .
ExAC_cnvZ : -0.0527399530618892
ExAC_delZ : 0.664211513008673
ExAC_dupZ : -0.469654475770328
ExAC_synZ : -1.17492037709547
ExAC_misZ : 3.55381554009447
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55206
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001167856
Tx_version : 3
Tx_start : 123289108
Tx_end : 123364847
Exon_count : 32
Overlapped_tx_length : 75739
Overlapped_CDS_length : 4182
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123289108
Intersect_end : 123364847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZDHHC17Gene_name : ZDHHC17;
LOEUF_bin : 0
GnomAD_pLI : 9.9989e-01
ExAC_pLI : 9.9839e-01
HI : .
TS : .
DDD_HI_percent : 6.79
ACMG : .
ExAC_cnvZ : 0.70492024747324
ExAC_delZ : 0.309416241024649
ExAC_dupZ : 0.737412240087183
ExAC_synZ : 0.139264609036197
ExAC_misZ : 1.56133828343068
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23390
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_015336
Tx_version : 4
Tx_start : 76764114
Tx_end : 76853696
Exon_count : 17
Overlapped_tx_length : 89582
Overlapped_CDS_length : 1899
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76764114
Intersect_end : 76853696
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PITPNM2Gene_name : PITPNM2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 48
ACMG : .
ExAC_cnvZ : 0.0915482440210239
ExAC_delZ : 1.05236899947949
ExAC_dupZ : -0.353879982748612
ExAC_synZ : 1.94470398079223
ExAC_misZ : 4.60525332519286
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57605
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_047429200
Tx_version : 1
Tx_start : 122983479
Tx_end : 123151090
Exon_count : 27
Overlapped_tx_length : 167611
Overlapped_CDS_length : 4308
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122983479
Intersect_end : 123151090
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SFSWAPGene_name : SFSWAP;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9943e-01
HI : .
TS : .
DDD_HI_percent : 66.02
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.236681290429628
ExAC_misZ : 3.9882471542894
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6433
txStart-intron11Location : txStart-intron11
CytoBand : q24.33
Location2 : 5'UTR-CDS
Tx : XM_011538655
Tx_version : 3
Tx_start : 131711089
Tx_end : 131783328
Exon_count : 15
Overlapped_tx_length : 50581
Overlapped_CDS_length : 1720
Overlapped_CDS_percent : 68
Frameshift : yes
Dist_nearest_SS : 2785
Nearest_SS_type : 3'
Intersect_start : 131711089
Intersect_end : 131761670
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SVOPGene_name : SVOP;
LOEUF_bin : 0
GnomAD_pLI : 9.9938e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 28.62
ACMG : .
ExAC_cnvZ : -1.28957023587184
ExAC_delZ : 0.601806774917476
ExAC_dupZ : -1.85000593614298
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55530
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_018711
Tx_version : 5
Tx_start : 108907740
Tx_end : 109021068
Exon_count : 16
Overlapped_tx_length : 113328
Overlapped_CDS_length : 1647
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108907740
Intersect_end : 109021068
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MAP3K12Gene_name : MAP3K12;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9998e-01
HI : .
TS : .
DDD_HI_percent : 24.82
ACMG : .
ExAC_cnvZ : 1.4387546208772
ExAC_delZ : 0.987651690783848
ExAC_dupZ : 1.23655484485106
ExAC_synZ : -0.843126297109948
ExAC_misZ : 2.9305282426525
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7786
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_011538725
Tx_version : 4
Tx_start : 53479668
Tx_end : 53501539
Exon_count : 14
Overlapped_tx_length : 21871
Overlapped_CDS_length : 2679
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53479668
Intersect_end : 53501539
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM132DGene_name : TMEM132D;
LOEUF_bin : 0
GnomAD_pLI : 9.9907e-01
ExAC_pLI : 9.9901e-01
HI : .
TS : .
DDD_HI_percent : 79.41
ACMG : .
ExAC_cnvZ : -0.764392483873001
ExAC_delZ : 0.0318310426670483
ExAC_dupZ : -1.06174135558274
ExAC_synZ : -0.986588659760716
ExAC_misZ : 1.20678916364238
GenCC_disease : intellectual disability
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 121256
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_133448
Tx_version : 3
Tx_start : 129071725
Tx_end : 129904025
Exon_count : 9
Overlapped_tx_length : 832300
Overlapped_CDS_length : 3300
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129071725
Intersect_end : 129904025
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AGAP2Gene_name : AGAP2;
LOEUF_bin : 0
GnomAD_pLI : 9.9816e-01
ExAC_pLI : 9.9922e-01
HI : .
TS : .
DDD_HI_percent : 37.07
ACMG : .
ExAC_cnvZ : -0.461122624028415
ExAC_delZ : 1.08785157891829
ExAC_dupZ : -1.0398547672196
ExAC_synZ : 3.03581597932753
ExAC_misZ : 5.74547005489691
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 116986
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_001122772
Tx_version : 3
Tx_start : 57725196
Tx_end : 57738742
Exon_count : 19
Overlapped_tx_length : 13546
Overlapped_CDS_length : 3579
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57725196
Intersect_end : 57738742
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
R3HDM2Gene_name : R3HDM2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9593e-01
HI : .
TS : .
DDD_HI_percent : 13.9
ACMG : .
ExAC_cnvZ : 1.32217287689442
ExAC_delZ : 0.847611387580096
ExAC_dupZ : 1.17172016120031
ExAC_synZ : 1.73850893813833
ExAC_misZ : 1.73147836635056
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22864
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428506
Tx_version : 1
Tx_start : 57253763
Tx_end : 57430619
Exon_count : 27
Overlapped_tx_length : 176856
Overlapped_CDS_length : 3300
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57253763
Intersect_end : 57430619
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRPF40BGene_name : PRPF40B;
LOEUF_bin : 0
GnomAD_pLI : 9.9963e-01
ExAC_pLI : 9.8865e-01
HI : .
TS : .
DDD_HI_percent : 22.54
ACMG : .
ExAC_cnvZ : 1.059112366465
ExAC_delZ : 1.1231910933012
ExAC_dupZ : 0.857070465703291
ExAC_synZ : -0.989504304852223
ExAC_misZ : 0.541181696867802
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25766
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_006719324
Tx_version : 5
Tx_start : 49624824
Tx_end : 49644665
Exon_count : 25
Overlapped_tx_length : 19841
Overlapped_CDS_length : 2868
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49624824
Intersect_end : 49644665
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PCBP2Gene_name : PCBP2;
LOEUF_bin : 0
GnomAD_pLI : 9.9617e-01
ExAC_pLI : 9.8703e-01
HI : .
TS : .
DDD_HI_percent : 4.18
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.624537673065402
ExAC_misZ : 4.5557539276807
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5094
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_005016
Tx_version : 6
Tx_start : 53452101
Tx_end : 53481162
Exon_count : 15
Overlapped_tx_length : 29061
Overlapped_CDS_length : 1101
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53452101
Intersect_end : 53481162
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HCFC2Gene_name : HCFC2;
LOEUF_bin : 0
GnomAD_pLI : 9.9989e-01
ExAC_pLI : 9.9447e-01
HI : .
TS : .
DDD_HI_percent : 22.88
ACMG : .
ExAC_cnvZ : 1.14267539159899
ExAC_delZ : 1.01926040816707
ExAC_dupZ : 0.856280208653185
ExAC_synZ : 0.98928094598585
ExAC_misZ : 3.75167501340109
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29915
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_013320
Tx_version : 3
Tx_start : 104064530
Tx_end : 104106524
Exon_count : 15
Overlapped_tx_length : 41994
Overlapped_CDS_length : 2379
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104064530
Intersect_end : 104106524
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCT2Gene_name : CCT2;
LOEUF_bin : 0
GnomAD_pLI : 9.9853e-01
ExAC_pLI : 9.9950e-01
HI : .
TS : .
DDD_HI_percent : 4.82
ACMG : .
ExAC_cnvZ : 0.591088189163156
ExAC_delZ : 0.974756329478559
ExAC_dupZ : 0.225016298761884
ExAC_synZ : -0.185418698391165
ExAC_misZ : 0.832416635714372
GenCC_disease : Leber congenital amaurosis; Leber congenital amaurosis 9
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 27645772
NCBI_gene_ID : 10576
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_006431
Tx_version : 3
Tx_start : 69585458
Tx_end : 69601570
Exon_count : 16
Overlapped_tx_length : 16112
Overlapped_CDS_length : 1608
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69585458
Intersect_end : 69601570
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RFX4Gene_name : RFX4;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9966e-01
HI : .
TS : .
DDD_HI_percent : 18.73
ACMG : .
ExAC_cnvZ : 0.624685126143477
ExAC_delZ : 0.703356288841523
ExAC_dupZ : 0.437757670239365
ExAC_synZ : 0.323129782409199
ExAC_misZ : 2.28087302554183
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5992
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001206691
Tx_version : 2
Tx_start : 106601147
Tx_end : 106762803
Exon_count : 18
Overlapped_tx_length : 161656
Overlapped_CDS_length : 2235
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106601147
Intersect_end : 106762803
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
EIF4BGene_name : EIF4B;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 30.89
ACMG : .
ExAC_cnvZ : -0.40280533740577
ExAC_delZ : 0.867001512162166
ExAC_dupZ : -0.900327243195131
ExAC_synZ : -0.0264485140856293
ExAC_misZ : 3.17386764509686
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1975
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001300821
Tx_version : 3
Tx_start : 53006455
Tx_end : 53042215
Exon_count : 15
Overlapped_tx_length : 35760
Overlapped_CDS_length : 1851
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53006455
Intersect_end : 53042215
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANKS1BGene_name : ANKS1B;
LOEUF_bin : 0
GnomAD_pLI : 9.9998e-01
ExAC_pLI : 9.9277e-01
HI : .
TS : .
DDD_HI_percent : 3.1
ACMG : .
ExAC_cnvZ : -0.984996866248863
ExAC_delZ : -1.4401620437535
ExAC_dupZ : -0.801770171411122
ExAC_synZ : -0.424542011319708
ExAC_misZ : 2.07799530227903
GenCC_disease : complex neurodevelopmental disorder
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : 31388001
NCBI_gene_ID : 56899
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001352186
Tx_version : 2
Tx_start : 98743973
Tx_end : 99984936
Exon_count : 27
Overlapped_tx_length : 1240963
Overlapped_CDS_length : 3858
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98743973
Intersect_end : 99984936
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:99772923-99782097P_loss_coord : 12:99772923-99782097
P_loss_source : dbVar:nssv17649976
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CDK17Gene_name : CDK17;
LOEUF_bin : 0
GnomAD_pLI : 9.9947e-01
ExAC_pLI : 9.8884e-01
HI : .
TS : .
DDD_HI_percent : 11.08
ACMG : .
ExAC_cnvZ : 1.12830094752822
ExAC_delZ : 1.01924022135655
ExAC_dupZ : 0.83529581439071
ExAC_synZ : -0.701316754576692
ExAC_misZ : 2.47905743723762
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5128
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001170464
Tx_version : 4
Tx_start : 96278224
Tx_end : 96400439
Exon_count : 16
Overlapped_tx_length : 122215
Overlapped_CDS_length : 1572
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96278224
Intersect_end : 96400439
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TAOK3Gene_name : TAOK3;
LOEUF_bin : 0
GnomAD_pLI : 9.9975e-01
ExAC_pLI : 9.9998e-01
HI : .
TS : .
DDD_HI_percent : 25.12
ACMG : .
ExAC_cnvZ : 0.655757728675724
ExAC_delZ : 0.749878977974857
ExAC_dupZ : 0.448142714272827
ExAC_synZ : 0.240152401796084
ExAC_misZ : 3.75744194850724
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51347
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_001346487
Tx_version : 2
Tx_start : 118149800
Tx_end : 118372907
Exon_count : 21
Overlapped_tx_length : 223107
Overlapped_CDS_length : 2724
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118149800
Intersect_end : 118372907
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KSR2Gene_name : KSR2;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9995e-01
HI : .
TS : .
DDD_HI_percent : 22.26
ACMG : .
ExAC_cnvZ : -0.0151678978319047
ExAC_delZ : 0.984641780107441
ExAC_dupZ : -0.472993046928909
ExAC_synZ : 0.901708199414056
ExAC_misZ : 4.19967543102087
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22866
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22-q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_173598
Tx_version : 6
Tx_start : 117453011
Tx_end : 117968990
Exon_count : 20
Overlapped_tx_length : 515979
Overlapped_CDS_length : 2853
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117453011
Intersect_end : 117968990
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HDAC7Gene_name : HDAC7;
LOEUF_bin : 0
GnomAD_pLI : 9.9969e-01
ExAC_pLI : 9.9802e-01
HI : .
TS : .
DDD_HI_percent : 41.92
ACMG : .
ExAC_cnvZ : 1.11836110430684
ExAC_delZ : 0.965167791581827
ExAC_dupZ : 0.891837173592649
ExAC_synZ : -0.413363674306038
ExAC_misZ : 1.89704945994123
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51564
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538481
Tx_version : 2
Tx_start : 47782721
Tx_end : 47820719
Exon_count : 26
Overlapped_tx_length : 37998
Overlapped_CDS_length : 3108
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47782721
Intersect_end : 47820719
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DNAJC14Gene_name : DNAJC14;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9971e-01
HI : .
TS : .
DDD_HI_percent : 41.33
ACMG : .
ExAC_cnvZ : -0.230197254337962
ExAC_delZ : 0.22610651492526
ExAC_dupZ : -0.455047464625187
ExAC_synZ : -0.911798230654102
ExAC_misZ : 1.21433807191269
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 85406
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001394689
Tx_version : 1
Tx_start : 55820984
Tx_end : 55830775
Exon_count : 7
Overlapped_tx_length : 9791
Overlapped_CDS_length : 2109
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55820984
Intersect_end : 55830775
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BAZ2AGene_name : BAZ2A;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 36.66
ACMG : .
ExAC_cnvZ : -0.614967128178231
ExAC_delZ : -2.57398893187808
ExAC_dupZ : 1.34165579635781
ExAC_synZ : -0.593726818625205
ExAC_misZ : 1.45673078795487
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11176
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428139
Tx_version : 1
Tx_start : 56597611
Tx_end : 56636875
Exon_count : 30
Overlapped_tx_length : 39264
Overlapped_CDS_length : 5889
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56597611
Intersect_end : 56636875
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RSRC2Gene_name : RSRC2;
LOEUF_bin : 0
GnomAD_pLI : 9.9905e-01
ExAC_pLI : 9.9288e-01
HI : .
TS : .
DDD_HI_percent : 14.95
ACMG : .
ExAC_cnvZ : 0.927194326411594
ExAC_delZ : 1.09003455428856
ExAC_dupZ : 0.571149223183936
ExAC_synZ : -0.87508219859418
ExAC_misZ : 2.01239780881739
GenCC_disease : complex neurodevelopmental disorder
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 65117
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_005253601
Tx_version : 3
Tx_start : 122503453
Tx_end : 122526936
Exon_count : 10
Overlapped_tx_length : 23483
Overlapped_CDS_length : 1308
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122503453
Intersect_end : 122526936
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZFC3H1Gene_name : ZFC3H1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 30.66
ACMG : .
ExAC_cnvZ : 1.15655884677236
ExAC_delZ : 1.01443655732462
ExAC_dupZ : 0.988035052402416
ExAC_synZ : -0.677745458216205
ExAC_misZ : 2.2110593525941
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196441
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_144982
Tx_version : 5
Tx_start : 71609598
Tx_end : 71663848
Exon_count : 35
Overlapped_tx_length : 54250
Overlapped_CDS_length : 5970
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71609598
Intersect_end : 71663848
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PTGES3Gene_name : PTGES3;
LOEUF_bin : 0
GnomAD_pLI : 9.8536e-01
ExAC_pLI : 8.7137e-01
HI : .
TS : .
DDD_HI_percent : 3.92
ACMG : .
ExAC_cnvZ : 0.757999785185388
ExAC_delZ : 0.101081889654148
ExAC_dupZ : 0.905819345075406
ExAC_synZ : 0.269670525475207
ExAC_misZ : 1.48327275853199
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10728
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_017018716
Tx_version : 2
Tx_start : 56664806
Tx_end : 56688284
Exon_count : 6
Overlapped_tx_length : 23478
Overlapped_CDS_length : 498
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56664806
Intersect_end : 56688284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NELL2Gene_name : NELL2;
LOEUF_bin : 0
GnomAD_pLI : 9.9952e-01
ExAC_pLI : 9.9985e-01
HI : .
TS : .
DDD_HI_percent : 20.12
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.0840482979150444
ExAC_misZ : 0.108003135456399
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4753
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001145107
Tx_version : 2
Tx_start : 44508277
Tx_end : 44876875
Exon_count : 21
Overlapped_tx_length : 368598
Overlapped_CDS_length : 2601
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44508277
Intersect_end : 44876875
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPP1CCGene_name : PPP1CC;
LOEUF_bin : 1
GnomAD_pLI : 9.5777e-01
ExAC_pLI : 9.4491e-01
HI : .
TS : .
DDD_HI_percent : 2.82
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.120994407302951
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.197917965786697
ExAC_misZ : 3.84806912569796
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5501
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538504
Tx_version : 4
Tx_start : 110708375
Tx_end : 110742891
Exon_count : 9
Overlapped_tx_length : 34516
Overlapped_CDS_length : 1089
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110708375
Intersect_end : 110742891
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
EEA1Gene_name : EEA1;
LOEUF_bin : 1
GnomAD_pLI : 9.2875e-01
ExAC_pLI : 6.9736e-01
HI : .
TS : .
DDD_HI_percent : 9.39
ACMG : .
ExAC_cnvZ : -0.0573899198450931
ExAC_delZ : -0.00838324136337842
ExAC_dupZ : -0.146669308837534
ExAC_synZ : -0.82842352049135
ExAC_misZ : 0.0091852462795493
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8411
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : XM_011538814
Tx_version : 3
Tx_start : 92770636
Tx_end : 92929295
Exon_count : 30
Overlapped_tx_length : 158659
Overlapped_CDS_length : 4362
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92770636
Intersect_end : 92929295
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM132CGene_name : TMEM132C;
LOEUF_bin : 1
GnomAD_pLI : 6.3879e-01
ExAC_pLI : 6.6707e-01
HI : .
TS : .
DDD_HI_percent : 76.34
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -2.1847112941702
ExAC_misZ : -0.47186644948566
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 92293
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32-q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_001136103
Tx_version : 3
Tx_start : 128267169
Tx_end : 128707911
Exon_count : 9
Overlapped_tx_length : 440742
Overlapped_CDS_length : 3327
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128267169
Intersect_end : 128707911
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPTC7Gene_name : PPTC7;
LOEUF_bin : 1
GnomAD_pLI : 9.3813e-01
ExAC_pLI : 3.5485e-01
HI : .
TS : .
DDD_HI_percent : 18.37
ACMG : .
ExAC_cnvZ : 0.286452939386722
ExAC_delZ : 0.136284758177561
ExAC_dupZ : 0.253263538511684
ExAC_synZ : 0.835466410465057
ExAC_misZ : 3.4101408705002
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160760
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_139283
Tx_version : 2
Tx_start : 110533244
Tx_end : 110583318
Exon_count : 6
Overlapped_tx_length : 50074
Overlapped_CDS_length : 915
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110533244
Intersect_end : 110583318
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC41A2Gene_name : SLC41A2;
LOEUF_bin : 1
GnomAD_pLI : 9.6597e-01
ExAC_pLI : 9.1305e-01
HI : .
TS : .
DDD_HI_percent : 43.09
ACMG : .
ExAC_cnvZ : 0.469606922536733
ExAC_delZ : 0.885652301263039
ExAC_dupZ : 0.0990992004669583
ExAC_synZ : 0.858141229884159
ExAC_misZ : 1.79489011199448
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84102
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001352169
Tx_version : 2
Tx_start : 104801800
Tx_end : 104958746
Exon_count : 12
Overlapped_tx_length : 156946
Overlapped_CDS_length : 1722
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104801800
Intersect_end : 104958746
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
POU6F1Gene_name : POU6F1;
LOEUF_bin : 1
GnomAD_pLI : 8.8028e-01
ExAC_pLI : 9.0756e-01
HI : .
TS : .
DDD_HI_percent : 17.88
ACMG : .
ExAC_cnvZ : 1.49451982593662
ExAC_delZ : 1.06096934935211
ExAC_dupZ : 1.30990321396553
ExAC_synZ : -0.383919686436974
ExAC_misZ : 1.87063803651315
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5463
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001330422
Tx_version : 2
Tx_start : 51186935
Tx_end : 51218062
Exon_count : 11
Overlapped_tx_length : 31127
Overlapped_CDS_length : 1836
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51186935
Intersect_end : 51218062
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CSRNP2Gene_name : CSRNP2;
LOEUF_bin : 1
GnomAD_pLI : 9.6015e-01
ExAC_pLI : 9.5052e-01
HI : .
TS : .
DDD_HI_percent : 32.27
ACMG : .
ExAC_cnvZ : 1.06437061983039
ExAC_delZ : 0.972874026868208
ExAC_dupZ : 0.827443351643024
ExAC_synZ : 0.612957350239435
ExAC_misZ : 2.38905827343874
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 81566
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_030809
Tx_version : 3
Tx_start : 51061204
Tx_end : 51083596
Exon_count : 5
Overlapped_tx_length : 22392
Overlapped_CDS_length : 1632
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51061204
Intersect_end : 51083596
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DTX3Gene_name : DTX3;
LOEUF_bin : 1
GnomAD_pLI : 8.8755e-01
ExAC_pLI : 9.2114e-01
HI : .
TS : .
DDD_HI_percent : 51.22
ACMG : .
ExAC_cnvZ : -0.170476033748511
ExAC_delZ : 0.198614561689181
ExAC_dupZ : -0.378428137531324
ExAC_synZ : 0.63975761997022
ExAC_misZ : 2.7992754346582
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196403
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001286245
Tx_version : 2
Tx_start : 57604823
Tx_end : 57609802
Exon_count : 6
Overlapped_tx_length : 4979
Overlapped_CDS_length : 1053
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57604823
Intersect_end : 57609802
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NCKAP5LGene_name : NCKAP5L;
LOEUF_bin : 1
GnomAD_pLI : 6.3200e-01
ExAC_pLI : 5.6562e-01
HI : .
TS : .
DDD_HI_percent : 65.38
ACMG : .
ExAC_cnvZ : 0.267341431495437
ExAC_delZ : 0.644565833116497
ExAC_dupZ : 0.032716850444266
ExAC_synZ : -1.65412853196955
ExAC_misZ : -1.10055296147918
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57701
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001037806
Tx_version : 4
Tx_start : 49791151
Tx_end : 49828413
Exon_count : 13
Overlapped_tx_length : 37262
Overlapped_CDS_length : 4005
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49791151
Intersect_end : 49828413
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPM1HGene_name : PPM1H;
LOEUF_bin : 1
GnomAD_pLI : 7.9216e-01
ExAC_pLI : 8.5502e-01
HI : .
TS : .
DDD_HI_percent : 26.05
ACMG : .
ExAC_cnvZ : 0.0110956614380988
ExAC_delZ : 0.384115063386556
ExAC_dupZ : -0.224259591687212
ExAC_synZ : 0.323513521941724
ExAC_misZ : 1.46178657833125
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57460
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1-q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_020700
Tx_version : 2
Tx_start : 62643993
Tx_end : 62935150
Exon_count : 10
Overlapped_tx_length : 291157
Overlapped_CDS_length : 1545
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62643993
Intersect_end : 62935150
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBC1D30Gene_name : TBC1D30;
LOEUF_bin : 1
GnomAD_pLI : 8.8919e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 46.21
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23329
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428595
Tx_version : 1
Tx_start : 64759483
Tx_end : 64881033
Exon_count : 15
Overlapped_tx_length : 121550
Overlapped_CDS_length : 2835
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64759483
Intersect_end : 64881033
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MLXIPGene_name : MLXIP;
LOEUF_bin : 1
GnomAD_pLI : 9.8932e-01
ExAC_pLI : 9.7575e-01
HI : .
TS : .
DDD_HI_percent : 62.59
ACMG : .
ExAC_cnvZ : 0.809856663432998
ExAC_delZ : 0.109158475451922
ExAC_dupZ : 1.01581930237475
ExAC_synZ : -1.25561335120879
ExAC_misZ : 1.90709081124185
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22877
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_006719290
Tx_version : 5
Tx_start : 122078755
Tx_end : 122147344
Exon_count : 18
Overlapped_tx_length : 68589
Overlapped_CDS_length : 2883
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122078755
Intersect_end : 122147344
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SART3Gene_name : SART3;
LOEUF_bin : 1
GnomAD_pLI : 9.9661e-01
ExAC_pLI : 9.9171e-01
HI : .
TS : .
DDD_HI_percent : 40.91
ACMG : .
ExAC_cnvZ : 1.42854532494576
ExAC_delZ : 1.30378487262467
ExAC_dupZ : 1.11052422264887
ExAC_synZ : 0.813609013403321
ExAC_misZ : 0.653187576731492
GenCC_disease : disseminated superficial actinic porokeratosis
GenCC_moi : AD
GenCC_classification : Moderate
GenCC_pmid : .
NCBI_gene_ID : 9733
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001410983
Tx_version : 1
Tx_start : 108522213
Tx_end : 108561173
Exon_count : 19
Overlapped_tx_length : 38960
Overlapped_CDS_length : 2946
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108522213
Intersect_end : 108561173
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IKZF4Gene_name : IKZF4;
LOEUF_bin : 1
GnomAD_pLI : 8.9759e-01
ExAC_pLI : 9.5361e-01
HI : .
TS : .
DDD_HI_percent : 19.79
ACMG : .
ExAC_cnvZ : 0.808072607467531
ExAC_delZ : 0.322568962657598
ExAC_dupZ : 0.745057540069426
ExAC_synZ : -0.480452838991825
ExAC_misZ : 2.54345471051253
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64375
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001351089
Tx_version : 2
Tx_start : 56007503
Tx_end : 56038435
Exon_count : 12
Overlapped_tx_length : 30932
Overlapped_CDS_length : 1758
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56007503
Intersect_end : 56038435
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC38A4Gene_name : SLC38A4;
LOEUF_bin : 1
GnomAD_pLI : 5.6028e-01
ExAC_pLI : 9.4298e-01
HI : .
TS : .
DDD_HI_percent : 36.19
ACMG : .
ExAC_cnvZ : 0.923710439332439
ExAC_delZ : 0.550721037055005
ExAC_dupZ : 0.894571672601645
ExAC_synZ : 0.185371061386652
ExAC_misZ : 0.917750725055896
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55089
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_005268997
Tx_version : 3
Tx_start : 46764760
Tx_end : 46832431
Exon_count : 16
Overlapped_tx_length : 67671
Overlapped_CDS_length : 1644
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46764760
Intersect_end : 46832431
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RNF41Gene_name : RNF41;
LOEUF_bin : 1
GnomAD_pLI : 9.6847e-01
ExAC_pLI : 8.5608e-01
HI : .
TS : .
DDD_HI_percent : 13.61
ACMG : .
ExAC_cnvZ : 1.05136591700837
ExAC_delZ : 0.404187585899245
ExAC_dupZ : 1.1654514667415
ExAC_synZ : 0.434645087193545
ExAC_misZ : 3.97521207486854
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10193
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_005785
Tx_version : 4
Tx_start : 56202178
Tx_end : 56221922
Exon_count : 7
Overlapped_tx_length : 19744
Overlapped_CDS_length : 954
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56202178
Intersect_end : 56221922
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SENP1Gene_name : SENP1;
LOEUF_bin : 1
GnomAD_pLI : 9.9358e-01
ExAC_pLI : 9.9390e-01
HI : .
TS : .
DDD_HI_percent : 16.49
ACMG : .
ExAC_cnvZ : -0.601359313698928
ExAC_delZ : 0.424342261440135
ExAC_dupZ : -1.01714303237877
ExAC_synZ : -0.922121781677002
ExAC_misZ : 1.51547748034392
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29843
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_017019229
Tx_version : 3
Tx_start : 48042896
Tx_end : 48105992
Exon_count : 19
Overlapped_tx_length : 63096
Overlapped_CDS_length : 2124
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48042896
Intersect_end : 48105992
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TUBA1BGene_name : TUBA1B;
LOEUF_bin : 1
GnomAD_pLI : 9.6767e-01
ExAC_pLI : 8.2842e-01
HI : .
TS : .
DDD_HI_percent : 15.63
ACMG : .
ExAC_cnvZ : 0.686978157954894
ExAC_delZ : 0.848718989795685
ExAC_dupZ : 0.424938215313686
ExAC_synZ : 2.41041005265164
ExAC_misZ : 5.96989422432644
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10376
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_006082
Tx_version : 3
Tx_start : 49127781
Tx_end : 49131395
Exon_count : 4
Overlapped_tx_length : 3614
Overlapped_CDS_length : 1356
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49127781
Intersect_end : 49131395
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MON2Gene_name : MON2;
LOEUF_bin : 1
GnomAD_pLI : 5.9388e-01
ExAC_pLI : 9.8271e-01
HI : .
TS : .
DDD_HI_percent : 19.11
ACMG : .
ExAC_cnvZ : 1.64898219508151
ExAC_delZ : 1.5287573628094
ExAC_dupZ : 1.29790165074874
ExAC_synZ : 0.685475775447476
ExAC_misZ : 2.0663430437427
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23041
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_017019041
Tx_version : 2
Tx_start : 62466825
Tx_end : 62600476
Exon_count : 36
Overlapped_tx_length : 133651
Overlapped_CDS_length : 5157
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62466825
Intersect_end : 62600476
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FMNL3Gene_name : FMNL3;
LOEUF_bin : 1
GnomAD_pLI : 4.6549e-01
ExAC_pLI : 3.5650e-01
HI : .
TS : .
DDD_HI_percent : 26.71
ACMG : .
ExAC_cnvZ : 1.19090127001751
ExAC_delZ : 1.78949033164975
ExAC_dupZ : 0.722049500533279
ExAC_synZ : -0.554792191460431
ExAC_misZ : 2.52390462121199
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 91010
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_011538968
Tx_version : 3
Tx_start : 49646641
Tx_end : 49706021
Exon_count : 26
Overlapped_tx_length : 59380
Overlapped_CDS_length : 3144
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49646641
Intersect_end : 49706021
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC2A13Gene_name : SLC2A13;
LOEUF_bin : 1
GnomAD_pLI : 8.3307e-01
ExAC_pLI : 9.5610e-01
HI : .
TS : .
DDD_HI_percent : 41.95
ACMG : .
ExAC_cnvZ : -0.496359651192041
ExAC_delZ : 0.299812245071838
ExAC_dupZ : -0.844103956265968
ExAC_synZ : 0.933118100871499
ExAC_misZ : 1.5954214581897
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 114134
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_052885
Tx_version : 4
Tx_start : 39755024
Tx_end : 40106081
Exon_count : 10
Overlapped_tx_length : 351057
Overlapped_CDS_length : 1947
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39755024
Intersect_end : 40106081
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDX23Gene_name : DDX23;
LOEUF_bin : 1
GnomAD_pLI : 5.4199e-01
ExAC_pLI : 9.9956e-01
HI : .
TS : .
DDD_HI_percent : 15.87
ACMG : .
ExAC_cnvZ : 0.869281739380798
ExAC_delZ : -0.0323332492935515
ExAC_dupZ : 1.40047097824411
ExAC_synZ : 0.0221523669022353
ExAC_misZ : 5.53126927248149
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9416
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_004818
Tx_version : 3
Tx_start : 48829755
Tx_end : 48852163
Exon_count : 17
Overlapped_tx_length : 22408
Overlapped_CDS_length : 2463
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48829755
Intersect_end : 48852163
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ITGA5Gene_name : ITGA5;
LOEUF_bin : 1
GnomAD_pLI : 4.2455e-01
ExAC_pLI : 9.9980e-01
HI : .
TS : .
DDD_HI_percent : 19.47
ACMG : .
ExAC_cnvZ : 0.494960834219013
ExAC_delZ : -0.306495622258561
ExAC_dupZ : 0.959523974522205
ExAC_synZ : 1.09046122271965
ExAC_misZ : 1.69621417407861
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3678
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_002205
Tx_version : 5
Tx_start : 54395260
Tx_end : 54419266
Exon_count : 30
Overlapped_tx_length : 24006
Overlapped_CDS_length : 3150
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54395260
Intersect_end : 54419266
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CLIP1Gene_name : CLIP1;
LOEUF_bin : 1
GnomAD_pLI : 6.8088e-01
ExAC_pLI : 9.6850e-01
HI : .
TS : .
DDD_HI_percent : 9.83
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.820040792488027
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -1.18212227206571
ExAC_misZ : 1.53314275370667
GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability
GenCC_moi : AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 24569606[PMID]
NCBI_gene_ID : 6249
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001389291
Tx_version : 1
Tx_start : 122271468
Tx_end : 122422669
Exon_count : 25
Overlapped_tx_length : 151201
Overlapped_CDS_length : 6447
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122271468
Intersect_end : 122422669
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
E2F7Gene_name : E2F7;
LOEUF_bin : 1
GnomAD_pLI : 9.9317e-01
ExAC_pLI : 4.2313e-01
HI : .
TS : .
DDD_HI_percent : 48.11
ACMG : .
ExAC_cnvZ : 0.641809952449293
ExAC_delZ : 0.507490527903258
ExAC_dupZ : 0.54375514262375
ExAC_synZ : -0.243833973098525
ExAC_misZ : 1.27337901070626
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144455
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_203394
Tx_version : 3
Tx_start : 77021250
Tx_end : 77065569
Exon_count : 13
Overlapped_tx_length : 44319
Overlapped_CDS_length : 2736
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 77021250
Intersect_end : 77065569
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NEDD1Gene_name : NEDD1;
LOEUF_bin : 1
GnomAD_pLI : 4.2159e-01
ExAC_pLI : 2.2156e-01
HI : .
TS : .
DDD_HI_percent : 12.42
ACMG : .
ExAC_cnvZ : 1.48358254031232
ExAC_delZ : 1.05911028283919
ExAC_dupZ : 1.23623659227645
ExAC_synZ : -0.575069555301656
ExAC_misZ : -1.01311197437051
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121441
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : XM_005268644
Tx_version : 3
Tx_start : 96907256
Tx_end : 96953780
Exon_count : 16
Overlapped_tx_length : 46524
Overlapped_CDS_length : 2004
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96907256
Intersect_end : 96953780
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PAN2Gene_name : PAN2;
LOEUF_bin : 1
GnomAD_pLI : 9.3596e-01
ExAC_pLI : 9.4667e-01
HI : .
TS : .
DDD_HI_percent : 29.11
ACMG : .
ExAC_cnvZ : 1.43271555126727
ExAC_delZ : 1.28961103868813
ExAC_dupZ : 1.12767665310183
ExAC_synZ : 0.388895797524822
ExAC_misZ : 3.32878058373677
GenCC_disease : multiple congenital anomalies/dysmorphic syndrome-intellectual disability
GenCC_moi : AR
GenCC_classification : Definitive
GenCC_pmid : 29620724; 35304602
NCBI_gene_ID : 147945
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001394699
Tx_version : 1
Tx_start : 56316935
Tx_end : 56334000
Exon_count : 26
Overlapped_tx_length : 17065
Overlapped_CDS_length : 3609
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56316935
Intersect_end : 56334000
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WSCD2Gene_name : WSCD2;
LOEUF_bin : 1
GnomAD_pLI : 7.8262e-01
ExAC_pLI : 4.9403e-01
HI : .
TS : .
DDD_HI_percent : 36.42
ACMG : .
ExAC_cnvZ : 1.10722372393253
ExAC_delZ : 0.658148327089086
ExAC_dupZ : 0.963846803651286
ExAC_synZ : 0.13884546721954
ExAC_misZ : 1.68242869183592
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9671
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_014653
Tx_version : 4
Tx_start : 108129287
Tx_end : 108250537
Exon_count : 9
Overlapped_tx_length : 121250
Overlapped_CDS_length : 1698
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108129287
Intersect_end : 108250537
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HSP90B1Gene_name : HSP90B1;
LOEUF_bin : 1
GnomAD_pLI : 9.9720e-01
ExAC_pLI : 9.8784e-01
HI : .
TS : .
DDD_HI_percent : 18.23
ACMG : .
ExAC_cnvZ : 0.323112466653815
ExAC_delZ : 0.913247141487
ExAC_dupZ : -0.061633523828744
ExAC_synZ : 0.183026630543806
ExAC_misZ : 1.76078069602436
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7184
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_003299
Tx_version : 3
Tx_start : 103930409
Tx_end : 103947926
Exon_count : 18
Overlapped_tx_length : 17517
Overlapped_CDS_length : 2412
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103930409
Intersect_end : 103947926
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
XPOTGene_name : XPOT;
LOEUF_bin : 1
GnomAD_pLI : 9.9711e-01
ExAC_pLI : 9.9793e-01
HI : .
TS : .
DDD_HI_percent : 9.12
ACMG : .
ExAC_cnvZ : 1.22449215913512
ExAC_delZ : 1.38842932128674
ExAC_dupZ : 0.827219714614072
ExAC_synZ : 0.197048293537978
ExAC_misZ : 1.7187242748224
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11260
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_007235
Tx_version : 6
Tx_start : 64404391
Tx_end : 64451125
Exon_count : 25
Overlapped_tx_length : 46734
Overlapped_CDS_length : 2889
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64404391
Intersect_end : 64451125
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KCNMB4Gene_name : KCNMB4;
LOEUF_bin : 1
GnomAD_pLI : 9.3853e-01
ExAC_pLI : 8.2940e-01
HI : .
TS : .
DDD_HI_percent : 30.79
ACMG : .
ExAC_cnvZ : 0.380648581597957
ExAC_delZ : 0.785397972174361
ExAC_dupZ : 0.0468026414633669
ExAC_synZ : 1.62700534816734
ExAC_misZ : 2.89838096608353
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27345
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_014505
Tx_version : 6
Tx_start : 70366289
Tx_end : 70434292
Exon_count : 3
Overlapped_tx_length : 68003
Overlapped_CDS_length : 633
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70366289
Intersect_end : 70434292
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PTPRBGene_name : PTPRB;
LOEUF_bin : 1
GnomAD_pLI : 5.0207e-01
ExAC_pLI : 9.4350e-01
HI : .
TS : .
DDD_HI_percent : 39.33
ACMG : .
ExAC_cnvZ : 1.41594489844355
ExAC_delZ : 1.24533171710121
ExAC_dupZ : 1.14555404734316
ExAC_synZ : -0.430123889066669
ExAC_misZ : 0.489616570808299
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5787
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : XM_006719528
Tx_version : 2
Tx_start : 70524288
Tx_end : 70637429
Exon_count : 33
Overlapped_tx_length : 113141
Overlapped_CDS_length : 6693
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70524288
Intersect_end : 70637429
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KANSL2Gene_name : KANSL2;
LOEUF_bin : 1
GnomAD_pLI : 8.7965e-01
ExAC_pLI : 4.0403e-01
HI : .
TS : .
DDD_HI_percent : 20
ACMG : .
ExAC_cnvZ : 0.860453340069621
ExAC_delZ : 0.37762131664899
ExAC_dupZ : 0.776357659284764
ExAC_synZ : -0.261073668444728
ExAC_misZ : 1.16092653910985
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54934
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_017822
Tx_version : 4
Tx_start : 48653210
Tx_end : 48682238
Exon_count : 10
Overlapped_tx_length : 29028
Overlapped_CDS_length : 1479
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48653210
Intersect_end : 48682238
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPATS2Gene_name : SPATS2;
LOEUF_bin : 1
GnomAD_pLI : 9.7239e-01
ExAC_pLI : 9.8965e-01
HI : .
TS : .
DDD_HI_percent : 12.29
ACMG : .
ExAC_cnvZ : 1.16268005595339
ExAC_delZ : 1.04309070486297
ExAC_dupZ : 0.911341260295752
ExAC_synZ : 0.69008791001802
ExAC_misZ : 0.282586031427667
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 65244
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047429409
Tx_version : 1
Tx_start : 49366851
Tx_end : 49527425
Exon_count : 13
Overlapped_tx_length : 160574
Overlapped_CDS_length : 1638
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49366851
Intersect_end : 49527425
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CABP1Gene_name : CABP1;
LOEUF_bin : 1
GnomAD_pLI : 8.8789e-01
ExAC_pLI : 9.9440e-01
HI : .
TS : .
DDD_HI_percent : 30.19
ACMG : .
ExAC_cnvZ : 0.0148145555292906
ExAC_delZ : -0.399789312949479
ExAC_dupZ : 0.226473958771823
ExAC_synZ : 0.634801136001966
ExAC_misZ : 2.46105337511305
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9478
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_017020235
Tx_version : 2
Tx_start : 120640625
Tx_end : 120680866
Exon_count : 6
Overlapped_tx_length : 40241
Overlapped_CDS_length : 1218
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120640625
Intersect_end : 120680866
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC38A1Gene_name : SLC38A1;
LOEUF_bin : 1
GnomAD_pLI : 9.3067e-01
ExAC_pLI : 9.7543e-01
HI : .
TS : .
DDD_HI_percent : 41.46
ACMG : .
ExAC_cnvZ : 1.13221431163947
ExAC_delZ : 0.481037768490264
ExAC_dupZ : 1.21853784708088
ExAC_synZ : 0.0734841472434173
ExAC_misZ : 2.27829001960581
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 81539
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001278390
Tx_version : 1
Tx_start : 46195724
Tx_end : 46267987
Exon_count : 17
Overlapped_tx_length : 72263
Overlapped_CDS_length : 1512
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46195724
Intersect_end : 46267987
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RIMBP2Gene_name : RIMBP2;
LOEUF_bin : 1
GnomAD_pLI : 6.7813e-01
ExAC_pLI : 2.9258e-01
HI : .
TS : .
DDD_HI_percent : 72.43
ACMG : .
ExAC_cnvZ : -0.4090288868792
ExAC_delZ : 0.349561229031008
ExAC_dupZ : -0.727894178055352
ExAC_synZ : 0.753694297564007
ExAC_misZ : 0.934077345277406
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23504
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : XM_011538103
Tx_version : 3
Tx_start : 130396132
Tx_end : 130635620
Exon_count : 23
Overlapped_tx_length : 239488
Overlapped_CDS_length : 4290
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130396132
Intersect_end : 130635620
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LARP4Gene_name : LARP4;
LOEUF_bin : 1
GnomAD_pLI : 8.6884e-01
ExAC_pLI : 9.9463e-01
HI : .
TS : .
DDD_HI_percent : 36.76
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.0475285908240321
ExAC_misZ : 0.569250290177566
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113251
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047428202
Tx_version : 1
Tx_start : 50401148
Tx_end : 50480004
Exon_count : 17
Overlapped_tx_length : 78856
Overlapped_CDS_length : 2217
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50401148
Intersect_end : 50480004
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NR2C1Gene_name : NR2C1;
LOEUF_bin : 1
GnomAD_pLI : 6.8284e-01
ExAC_pLI : 9.8233e-01
HI : .
TS : .
DDD_HI_percent : 21.46
ACMG : .
ExAC_cnvZ : 1.12225330740872
ExAC_delZ : 0.75281743602543
ExAC_dupZ : 1.09248570115775
ExAC_synZ : 0.493106219687118
ExAC_misZ : 0.240723355544259
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7181
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_003297
Tx_version : 4
Tx_start : 95020228
Tx_end : 95073618
Exon_count : 14
Overlapped_tx_length : 53390
Overlapped_CDS_length : 1812
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95020228
Intersect_end : 95073618
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ASIC1Gene_name : ASIC1;
LOEUF_bin : 1
GnomAD_pLI : 9.3017e-01
ExAC_pLI : 9.8833e-01
HI : .
TS : .
DDD_HI_percent : 22.59
ACMG : .
ExAC_cnvZ : 1.00007407053329
ExAC_delZ : 1.14275617249776
ExAC_dupZ : 0.6988137823525
ExAC_synZ : 1.13457286665136
ExAC_misZ : 3.43530901087114
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 41
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_020039
Tx_version : 4
Tx_start : 50057595
Tx_end : 50083611
Exon_count : 12
Overlapped_tx_length : 26016
Overlapped_CDS_length : 1725
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50057595
Intersect_end : 50083611
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PLXNC1Gene_name : PLXNC1;
LOEUF_bin : 1
GnomAD_pLI : 9.9811e-01
ExAC_pLI : 9.9971e-01
HI : .
TS : .
DDD_HI_percent : 9.98
ACMG : .
ExAC_cnvZ : 1.39327533437269
ExAC_delZ : 1.7996243470657
ExAC_dupZ : 0.929820920629263
ExAC_synZ : 1.88039922100231
ExAC_misZ : 5.06012228154622
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10154
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_005761
Tx_version : 3
Tx_start : 94148576
Tx_end : 94307675
Exon_count : 31
Overlapped_tx_length : 159099
Overlapped_CDS_length : 4707
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94148576
Intersect_end : 94307675
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DGKAGene_name : DGKA;
LOEUF_bin : 1
GnomAD_pLI : 4.6072e-01
ExAC_pLI : 9.9925e-01
HI : .
TS : .
DDD_HI_percent : 53.54
ACMG : .
ExAC_cnvZ : 0.250122139630421
ExAC_delZ : 0.146010693595046
ExAC_dupZ : 0.221620549572833
ExAC_synZ : 1.64259257698771
ExAC_misZ : 2.86212944920599
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1606
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : XM_017018900
Tx_version : 1
Tx_start : 55935833
Tx_end : 55954023
Exon_count : 23
Overlapped_tx_length : 18190
Overlapped_CDS_length : 2676
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55935833
Intersect_end : 55954023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
VPS29Gene_name : VPS29;
LOEUF_bin : 2
GnomAD_pLI : 7.4696e-01
ExAC_pLI : 9.3474e-01
HI : .
TS : .
DDD_HI_percent : 8.49
ACMG : .
ExAC_cnvZ : -0.331292359998551
ExAC_delZ : -0.303227225152942
ExAC_dupZ : -0.319921618247538
ExAC_synZ : 0.38506430417839
ExAC_misZ : 1.51105166429376
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51699
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001282150
Tx_version : 2
Tx_start : 110491082
Tx_end : 110502111
Exon_count : 6
Overlapped_tx_length : 11029
Overlapped_CDS_length : 645
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110491082
Intersect_end : 110502111
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HVCN1Gene_name : HVCN1;
LOEUF_bin : 2
GnomAD_pLI : 6.2735e-01
ExAC_pLI : 7.5049e-01
HI : .
TS : .
DDD_HI_percent : 62.05
ACMG : .
ExAC_cnvZ : -0.070120615196434
ExAC_delZ : -0.0293157431970704
ExAC_dupZ : -0.122080430863517
ExAC_synZ : 0.612909945964831
ExAC_misZ : 1.29508764509089
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84329
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_017020026
Tx_version : 3
Tx_start : 110648685
Tx_end : 110702395
Exon_count : 9
Overlapped_tx_length : 53710
Overlapped_CDS_length : 963
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110648685
Intersect_end : 110702395
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RNF34Gene_name : RNF34;
LOEUF_bin : 2
GnomAD_pLI : 6.1057e-01
ExAC_pLI : 1.9089e-01
HI : .
TS : .
DDD_HI_percent : 39.07
ACMG : .
ExAC_cnvZ : 0.381303915679891
ExAC_delZ : -0.3988546669592
ExAC_dupZ : 0.833747856919624
ExAC_synZ : 0.593103051630742
ExAC_misZ : 1.61193720671172
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80196
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001394208
Tx_version : 1
Tx_start : 121400117
Tx_end : 121424348
Exon_count : 8
Overlapped_tx_length : 24231
Overlapped_CDS_length : 1122
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121400117
Intersect_end : 121424348
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SRSF9Gene_name : SRSF9;
LOEUF_bin : 2
GnomAD_pLI : 6.3924e-01
ExAC_pLI : 8.1964e-01
HI : .
TS : .
DDD_HI_percent : 8.01
ACMG : .
ExAC_cnvZ : 0.888611901625132
ExAC_delZ : 0.419162286435037
ExAC_dupZ : 0.788195573940982
ExAC_synZ : 0.299526485210479
ExAC_misZ : 3.26863645107309
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8683
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_003769
Tx_version : 3
Tx_start : 120461671
Tx_end : 120469748
Exon_count : 4
Overlapped_tx_length : 8077
Overlapped_CDS_length : 666
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120461671
Intersect_end : 120469748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PHLDA1Gene_name : PHLDA1;
LOEUF_bin : 2
GnomAD_pLI : 7.9833e-01
ExAC_pLI : 1.6687e-01
HI : .
TS : .
DDD_HI_percent : 48.91
ACMG : .
ExAC_cnvZ : 0.182551580119918
ExAC_delZ : -0.173609976148084
ExAC_dupZ : 0.218550703634336
ExAC_synZ : 1.5537985528094
ExAC_misZ : 2.35225778494265
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22822
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_007350
Tx_version : 3
Tx_start : 76025446
Tx_end : 76031776
Exon_count : 2
Overlapped_tx_length : 6330
Overlapped_CDS_length : 1206
Overlapped_CDS_percent : 97
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76025446
Intersect_end : 76031776
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
POC1B-GALNT4Gene_name : POC1B-GALNT4;
LOEUF_bin : 2
GnomAD_pLI : 1.0708e-01
ExAC_pLI : 3.7596e-02
HI : .
TS : .
DDD_HI_percent : 56.73
ACMG : .
ExAC_cnvZ : 0.186872850263921
ExAC_delZ : 0.111679122078135
ExAC_dupZ : 0.0685297101712373
ExAC_synZ : 0.202099167864402
ExAC_misZ : 0.304954723585114
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100528030
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_001199781
Tx_version : 2
Tx_start : 89519411
Tx_end : 89526047
Exon_count : 3
Overlapped_tx_length : 6636
Overlapped_CDS_length : 1728
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89519411
Intersect_end : 89526047
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
YAF2Gene_name : YAF2;
LOEUF_bin : 2
GnomAD_pLI : 7.9482e-01
ExAC_pLI : 8.4251e-01
HI : .
TS : .
DDD_HI_percent : 22.26
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.212145549633695
ExAC_misZ : 1.60747405575457
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10138
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_011537728
Tx_version : 4
Tx_start : 42157103
Tx_end : 42238248
Exon_count : 6
Overlapped_tx_length : 81145
Overlapped_CDS_length : 717
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42157103
Intersect_end : 42238248
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GALNT4Gene_name : GALNT4;
LOEUF_bin : 2
GnomAD_pLI : 2.6691e-01
ExAC_pLI : 1.1293e-01
HI : .
TS : .
DDD_HI_percent : 64.48
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.168339131576329
ExAC_misZ : 0.101720410301536
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8693
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_003774
Tx_version : 5
Tx_start : 89519411
Tx_end : 89524796
Exon_count : 1
Overlapped_tx_length : 5385
Overlapped_CDS_length : 1737
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89519411
Intersect_end : 89524796
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GXYLT1Gene_name : GXYLT1;
LOEUF_bin : 2
GnomAD_pLI : 1.2503e-01
ExAC_pLI : 9.8748e-01
HI : .
TS : .
DDD_HI_percent : 44.77
ACMG : .
ExAC_cnvZ : 0.297188866592802
ExAC_delZ : 0.176173352319759
ExAC_dupZ : 0.237295246667658
ExAC_synZ : 0.573280942169069
ExAC_misZ : 0.823215966644879
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283464
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_173601
Tx_version : 2
Tx_start : 42081844
Tx_end : 42144874
Exon_count : 8
Overlapped_tx_length : 63030
Overlapped_CDS_length : 1323
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42081844
Intersect_end : 42144874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TRHDEGene_name : TRHDE;
LOEUF_bin : 2
GnomAD_pLI : 1.0218e-06
ExAC_pLI : 8.0997e-02
HI : .
TS : .
DDD_HI_percent : 6.63
ACMG : .
ExAC_cnvZ : -0.951289680998097
ExAC_delZ : -2.03475606834556
ExAC_dupZ : -0.219100853316599
ExAC_synZ : 2.14032285680474
ExAC_misZ : 3.85315077702152
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29953
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_013381
Tx_version : 3
Tx_start : 72272369
Tx_end : 72670758
Exon_count : 19
Overlapped_tx_length : 398389
Overlapped_CDS_length : 3210
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 72272369
Intersect_end : 72670758
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CDK2Gene_name : CDK2;
LOEUF_bin : 2
GnomAD_pLI : 6.1054e-01
ExAC_pLI : 9.5830e-01
HI : .
TS : .
DDD_HI_percent : 0.67
ACMG : .
ExAC_cnvZ : 0.693365261997518
ExAC_delZ : -0.16243438681751
ExAC_dupZ : 1.0975746116512
ExAC_synZ : 0.0369369403215127
ExAC_misZ : 2.89910545322279
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1017
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : XM_011537732
Tx_version : 2
Tx_start : 55966829
Tx_end : 55972789
Exon_count : 8
Overlapped_tx_length : 5960
Overlapped_CDS_length : 1041
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55966829
Intersect_end : 55972789
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NR4A1Gene_name : NR4A1;
LOEUF_bin : 2
GnomAD_pLI : 3.7074e-01
ExAC_pLI : 9.5950e-01
HI : .
TS : .
DDD_HI_percent : 10.44
ACMG : .
ExAC_cnvZ : 1.20302988463659
ExAC_delZ : 0.756397405229422
ExAC_dupZ : 1.08582109880216
ExAC_synZ : 0.0635678489487173
ExAC_misZ : 1.7186998515324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3164
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_047428755
Tx_version : 1
Tx_start : 52038755
Tx_end : 52059503
Exon_count : 8
Overlapped_tx_length : 20748
Overlapped_CDS_length : 2544
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52038755
Intersect_end : 52059503
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ERP29Gene_name : ERP29;
LOEUF_bin : 2
GnomAD_pLI : 7.5108e-01
ExAC_pLI : 4.7065e-01
HI : .
TS : .
DDD_HI_percent : 37.13
ACMG : .
ExAC_cnvZ : 0.758190394454006
ExAC_delZ : 0.298541535257637
ExAC_dupZ : 0.682412314450956
ExAC_synZ : 0.868756128762644
ExAC_misZ : 0.103579699770576
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10961
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_006817
Tx_version : 4
Tx_start : 112013425
Tx_end : 112023449
Exon_count : 3
Overlapped_tx_length : 10024
Overlapped_CDS_length : 786
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112013425
Intersect_end : 112023449
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UTP20Gene_name : UTP20;
LOEUF_bin : 2
GnomAD_pLI : 3.0008e-15
ExAC_pLI : 1.7023e-01
HI : .
TS : .
DDD_HI_percent : 51.5
ACMG : .
ExAC_cnvZ : 0.763937017831234
ExAC_delZ : 0.293127162637698
ExAC_dupZ : 0.944566685368589
ExAC_synZ : -0.377161552831333
ExAC_misZ : -0.992099432920048
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27340
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_014503
Tx_version : 3
Tx_start : 101280104
Tx_end : 101386618
Exon_count : 62
Overlapped_tx_length : 106514
Overlapped_CDS_length : 8358
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101280104
Intersect_end : 101386618
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SCARB1Gene_name : SCARB1;
LOEUF_bin : 2
GnomAD_pLI : 6.6228e-02
ExAC_pLI : 7.7224e-02
HI : .
TS : .
DDD_HI_percent : 37.77
ACMG : .
ExAC_cnvZ : -0.745774045396566
ExAC_delZ : -0.332821062170965
ExAC_dupZ : -0.877601927858474
ExAC_synZ : 0.406125166237472
ExAC_misZ : 1.81669232109387
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 949
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001367981
Tx_version : 1
Tx_start : 124776855
Tx_end : 124863864
Exon_count : 12
Overlapped_tx_length : 87009
Overlapped_CDS_length : 1659
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124776855
Intersect_end : 124863864
601040; OMIM_ID : 601040;
OMIM_phenotype : [High density lipoprotein cholesterol level QTL6], 610762 (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UNC119BGene_name : UNC119B;
LOEUF_bin : 2
GnomAD_pLI : 7.8353e-01
ExAC_pLI : 6.7733e-01
HI : .
TS : .
DDD_HI_percent : 41.97
ACMG : .
ExAC_cnvZ : 0.241943961367973
ExAC_delZ : -0.143687383684595
ExAC_dupZ : 0.411286791937588
ExAC_synZ : 0.123091284145145
ExAC_misZ : 1.37951880783601
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84747
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001080533
Tx_version : 3
Tx_start : 120710457
Tx_end : 120723640
Exon_count : 5
Overlapped_tx_length : 13183
Overlapped_CDS_length : 756
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120710457
Intersect_end : 120723640
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDNGene_name : DDN;
LOEUF_bin : 2
GnomAD_pLI : 3.5900e-01
ExAC_pLI : 9.8668e-01
HI : .
TS : .
DDD_HI_percent : 56.38
ACMG : .
ExAC_cnvZ : 0.60935875216948
ExAC_delZ : 0.238450903953147
ExAC_dupZ : 0.591017518076066
ExAC_synZ : 2.36659014535539
ExAC_misZ : 3.62737735166411
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23109
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_015086
Tx_version : 2
Tx_start : 48995148
Tx_end : 48999375
Exon_count : 2
Overlapped_tx_length : 4227
Overlapped_CDS_length : 2136
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48995148
Intersect_end : 48999375
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CAMKK2Gene_name : CAMKK2;
LOEUF_bin : 2
GnomAD_pLI : 9.1625e-02
ExAC_pLI : 5.0348e-01
HI : .
TS : .
DDD_HI_percent : 38.95
ACMG : .
ExAC_cnvZ : -0.91853670464793
ExAC_delZ : -0.548425343207965
ExAC_dupZ : -1.05075413038438
ExAC_synZ : -0.0238005368537497
ExAC_misZ : 1.71432321916522
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10645
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_006549
Tx_version : 4
Tx_start : 121237691
Tx_end : 121297819
Exon_count : 17
Overlapped_tx_length : 60128
Overlapped_CDS_length : 1767
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121237691
Intersect_end : 121297819
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DENRGene_name : DENR;
LOEUF_bin : 2
GnomAD_pLI : 8.7514e-01
ExAC_pLI : 8.4625e-01
HI : .
TS : .
DDD_HI_percent : 11.92
ACMG : .
ExAC_cnvZ : 0.302535447496968
ExAC_delZ : 0.433358415734932
ExAC_dupZ : 0.0819405059564467
ExAC_synZ : -0.338812481999298
ExAC_misZ : 1.03025851049122
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8562
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_003677
Tx_version : 5
Tx_start : 122752823
Tx_end : 122771064
Exon_count : 8
Overlapped_tx_length : 18241
Overlapped_CDS_length : 597
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122752823
Intersect_end : 122771064
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPLP0Gene_name : RPLP0;
LOEUF_bin : 2
GnomAD_pLI : 7.6762e-01
ExAC_pLI : 9.7869e-01
HI : .
TS : .
DDD_HI_percent : 8.56
ACMG : .
ExAC_cnvZ : 0.238639994234404
ExAC_delZ : 0.345955832682818
ExAC_dupZ : 0.0503639116415806
ExAC_synZ : 0.488203676451251
ExAC_misZ : 2.01109591259794
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6175
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_001002
Tx_version : 4
Tx_start : 120196698
Tx_end : 120201111
Exon_count : 8
Overlapped_tx_length : 4413
Overlapped_CDS_length : 954
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120196698
Intersect_end : 120201111
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPH3AGene_name : RPH3A;
LOEUF_bin : 2
GnomAD_pLI : 1.6609e-03
ExAC_pLI : 7.3860e-01
HI : 1
TS : 0
DDD_HI_percent : 42.44
ACMG : .
ExAC_cnvZ : -1.47216318967414
ExAC_delZ : -0.31398223102342
ExAC_dupZ : -1.93695663684167
ExAC_synZ : -0.0139732529163612
ExAC_misZ : 1.01913966806544
GenCC_disease : congenital myasthenic syndrome
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 22895
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001347952
Tx_version : 2
Tx_start : 112575235
Tx_end : 112898881
Exon_count : 22
Overlapped_tx_length : 323646
Overlapped_CDS_length : 2085
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112575235
Intersect_end : 112898881
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANO4Gene_name : ANO4;
LOEUF_bin : 2
GnomAD_pLI : 3.2204e-04
ExAC_pLI : 8.4404e-01
HI : .
TS : .
DDD_HI_percent : 11.58
ACMG : .
ExAC_cnvZ : 1.14593435920816
ExAC_delZ : 1.05530622528142
ExAC_dupZ : 0.955196592711718
ExAC_synZ : 1.51450831955003
ExAC_misZ : 2.91533765471971
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121601
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : XM_011537911
Tx_version : 3
Tx_start : 100717260
Tx_end : 101128641
Exon_count : 30
Overlapped_tx_length : 411381
Overlapped_CDS_length : 3459
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100717260
Intersect_end : 101128641
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SSH1Gene_name : SSH1;
LOEUF_bin : 2
GnomAD_pLI : 3.3003e-04
ExAC_pLI : 9.8716e-01
HI : .
TS : .
DDD_HI_percent : 68.19
ACMG : .
ExAC_cnvZ : 0.103753850727193
ExAC_delZ : -0.879195668175821
ExAC_dupZ : 0.784997130503175
ExAC_synZ : -0.182725633129073
ExAC_misZ : 0.828742762336063
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54434
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538497
Tx_version : 2
Tx_start : 108778190
Tx_end : 108827551
Exon_count : 14
Overlapped_tx_length : 49361
Overlapped_CDS_length : 3183
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108778190
Intersect_end : 108827551
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BICD1Gene_name : BICD1;
LOEUF_bin : 2
GnomAD_pLI : 1.5724e-05
ExAC_pLI : 1.4479e-01
HI : .
TS : .
DDD_HI_percent : 57.71
ACMG : .
ExAC_cnvZ : 0.420415784711212
ExAC_delZ : 0.566935108197909
ExAC_dupZ : 0.176000860216905
ExAC_synZ : 0.495535483521516
ExAC_misZ : 2.05731973591457
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 636
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001413156
Tx_version : 1
Tx_start : 32106846
Tx_end : 32348403
Exon_count : 9
Overlapped_tx_length : 241557
Overlapped_CDS_length : 2982
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32106846
Intersect_end : 32348403
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TPCN1Gene_name : TPCN1;
LOEUF_bin : 2
GnomAD_pLI : 3.9780e-03
ExAC_pLI : 3.8589e-03
HI : .
TS : .
DDD_HI_percent : 43.77
ACMG : .
ExAC_cnvZ : -2.27757806892318
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.14895878397822
ExAC_synZ : -0.560582715165394
ExAC_misZ : 2.51827383122478
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 53373
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001143819
Tx_version : 3
Tx_start : 113221463
Tx_end : 113298585
Exon_count : 29
Overlapped_tx_length : 77122
Overlapped_CDS_length : 2667
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113221463
Intersect_end : 113298585
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PDE1BGene_name : PDE1B;
LOEUF_bin : 2
GnomAD_pLI : 3.3646e-01
ExAC_pLI : 9.4674e-01
HI : .
TS : .
DDD_HI_percent : 35.47
ACMG : .
ExAC_cnvZ : 0.798705504785713
ExAC_delZ : 0.889738493439691
ExAC_dupZ : 0.583529140751633
ExAC_synZ : 0.364090618299356
ExAC_misZ : 2.08359798697158
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5153
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : XM_047428970
Tx_version : 1
Tx_start : 54549917
Tx_end : 54579239
Exon_count : 16
Overlapped_tx_length : 29322
Overlapped_CDS_length : 1614
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54549917
Intersect_end : 54579239
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CPNE8Gene_name : CPNE8;
LOEUF_bin : 2
GnomAD_pLI : 8.0248e-03
ExAC_pLI : 7.8004e-02
HI : .
TS : .
DDD_HI_percent : 47.05
ACMG : .
ExAC_cnvZ : -0.555468997377411
ExAC_delZ : 1.16391372692534
ExAC_dupZ : -1.19879352293933
ExAC_synZ : -0.667551989115263
ExAC_misZ : 1.34055381297645
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144402
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_153634
Tx_version : 3
Tx_start : 38652202
Tx_end : 38905591
Exon_count : 20
Overlapped_tx_length : 253389
Overlapped_CDS_length : 1695
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 38652202
Intersect_end : 38905591
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TARBP2Gene_name : TARBP2;
LOEUF_bin : 2
GnomAD_pLI : 4.6644e-01
ExAC_pLI : 4.4680e-01
HI : .
TS : .
DDD_HI_percent : 34.61
ACMG : .
ExAC_cnvZ : 1.15948340656564
ExAC_delZ : 0.696925983440805
ExAC_dupZ : 1.01363286953046
ExAC_synZ : -0.595043374304106
ExAC_misZ : 2.48033474114742
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6895
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_134323
Tx_version : 2
Tx_start : 53501282
Tx_end : 53506431
Exon_count : 9
Overlapped_tx_length : 5149
Overlapped_CDS_length : 1101
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53501282
Intersect_end : 53506431
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAM222AGene_name : FAM222A;
LOEUF_bin : 2
GnomAD_pLI : 8.5124e-01
ExAC_pLI : 4.0039e-01
HI : .
TS : .
DDD_HI_percent : 56.77
ACMG : .
ExAC_cnvZ : 0.0642964043797667
ExAC_delZ : -0.560813949627077
ExAC_dupZ : 0.394685070340443
ExAC_synZ : 0.139987537995054
ExAC_misZ : -0.101986582073282
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84915
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_032829
Tx_version : 3
Tx_start : 109713824
Tx_end : 109770495
Exon_count : 3
Overlapped_tx_length : 56671
Overlapped_CDS_length : 1359
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109713824
Intersect_end : 109770495
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RND1Gene_name : RND1;
LOEUF_bin : 2
GnomAD_pLI : 7.3701e-01
ExAC_pLI : 9.6563e-01
HI : .
TS : .
DDD_HI_percent : 23.66
ACMG : .
ExAC_cnvZ : 1.32180646207861
ExAC_delZ : 0.869695811922652
ExAC_dupZ : 1.16871713000622
ExAC_synZ : 0.379370680227178
ExAC_misZ : 1.76239383713003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27289
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_014470
Tx_version : 4
Tx_start : 48857144
Tx_end : 48865870
Exon_count : 5
Overlapped_tx_length : 8726
Overlapped_CDS_length : 699
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48857144
Intersect_end : 48865870
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMTC2Gene_name : TMTC2;
LOEUF_bin : 2
GnomAD_pLI : 2.2549e-02
ExAC_pLI : 8.6310e-01
HI : .
TS : .
DDD_HI_percent : 9.29
ACMG : .
ExAC_cnvZ : -0.0528759496198518
ExAC_delZ : -1.31984144093578
ExAC_dupZ : 1.00289708667625
ExAC_synZ : -0.755107736363845
ExAC_misZ : 0.0318201863429181
GenCC_disease : nonsyndromic genetic hearing loss
GenCC_moi : AD
GenCC_classification : Disputed Evidence
GenCC_pmid : .
NCBI_gene_ID : 160335
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_152588
Tx_version : 3
Tx_start : 82686905
Tx_end : 83134866
Exon_count : 12
Overlapped_tx_length : 447961
Overlapped_CDS_length : 2511
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 82686905
Intersect_end : 83134866
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NUDT4Gene_name : NUDT4;
LOEUF_bin : 2
GnomAD_pLI : 7.9724e-01
ExAC_pLI : 1.6417e-01
HI : .
TS : .
DDD_HI_percent : 29.65
ACMG : .
ExAC_cnvZ : 0.478237290628769
ExAC_delZ : 0.313205154494596
ExAC_dupZ : 0.340459566164723
ExAC_synZ : 0.245258937130391
ExAC_misZ : 0.949489459486329
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11163
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_199040
Tx_version : 4
Tx_start : 93377924
Tx_end : 93408146
Exon_count : 5
Overlapped_tx_length : 30222
Overlapped_CDS_length : 546
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93377924
Intersect_end : 93408146
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NUAK1Gene_name : NUAK1;
LOEUF_bin : 2
GnomAD_pLI : 9.8693e-02
ExAC_pLI : 1.8903e-01
HI : .
TS : .
DDD_HI_percent : 30.88
ACMG : .
ExAC_cnvZ : 0.897707773424162
ExAC_delZ : 0.438890407612078
ExAC_dupZ : 0.787242682552862
ExAC_synZ : -0.123787689901562
ExAC_misZ : 2.2797902937974
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9891
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_014840
Tx_version : 3
Tx_start : 106063344
Tx_end : 106138954
Exon_count : 7
Overlapped_tx_length : 75610
Overlapped_CDS_length : 1986
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106063344
Intersect_end : 106138954
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBC1D15Gene_name : TBC1D15;
LOEUF_bin : 2
GnomAD_pLI : 6.1520e-02
ExAC_pLI : 1.4872e-01
HI : .
TS : .
DDD_HI_percent : 13.97
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.185758488894497
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.46300565501474
ExAC_misZ : 0.0134988587541383
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64786
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : XM_006719564
Tx_version : 3
Tx_start : 71861404
Tx_end : 71924313
Exon_count : 18
Overlapped_tx_length : 62909
Overlapped_CDS_length : 2100
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71861404
Intersect_end : 71924313
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RACGAP1Gene_name : RACGAP1;
LOEUF_bin : 2
GnomAD_pLI : 1.7041e-03
ExAC_pLI : 7.8637e-01
HI : .
TS : .
DDD_HI_percent : 2.75
ACMG : .
ExAC_cnvZ : 1.23296772730997
ExAC_delZ : 0.853354933533196
ExAC_dupZ : 1.19828290073511
ExAC_synZ : -0.0986826486257814
ExAC_misZ : 1.91324058599544
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29127
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_024448958
Tx_version : 2
Tx_start : 49989161
Tx_end : 50033440
Exon_count : 19
Overlapped_tx_length : 44279
Overlapped_CDS_length : 1956
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49989161
Intersect_end : 50033440
604980; OMIM_ID : 604980;
OMIM_phenotype : Anemia, congenital dyserythropoietic, type IIIb, AR, 619789 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CKAP4Gene_name : CKAP4;
LOEUF_bin : 2
GnomAD_pLI : 5.0863e-01
ExAC_pLI : 8.9186e-01
HI : .
TS : .
DDD_HI_percent : 76.47
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.594223699757869
ExAC_misZ : 1.29098730036586
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10970
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_006825
Tx_version : 4
Tx_start : 106237880
Tx_end : 106248020
Exon_count : 2
Overlapped_tx_length : 10140
Overlapped_CDS_length : 1809
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106237880
Intersect_end : 106248020
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
VEZTGene_name : VEZT;
LOEUF_bin : 2
GnomAD_pLI : 1.1018e-01
ExAC_pLI : 2.5937e-02
HI : .
TS : .
DDD_HI_percent : 32.61
ACMG : .
ExAC_cnvZ : 1.51289205123955
ExAC_delZ : 1.07922079920451
ExAC_dupZ : 1.30590622269097
ExAC_synZ : -0.43441707436122
ExAC_misZ : -1.08154759910693
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55591
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_001352088
Tx_version : 2
Tx_start : 95217806
Tx_end : 95302799
Exon_count : 13
Overlapped_tx_length : 84993
Overlapped_CDS_length : 2409
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95217806
Intersect_end : 95302799
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FGD6Gene_name : FGD6;
LOEUF_bin : 2
GnomAD_pLI : 2.4019e-08
ExAC_pLI : 9.9523e-01
HI : .
TS : .
DDD_HI_percent : 53.07
ACMG : .
ExAC_cnvZ : 0.123116904859452
ExAC_delZ : -0.668104590582154
ExAC_dupZ : 0.611090776529598
ExAC_synZ : 0.297898178917382
ExAC_misZ : -0.563915329463334
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55785
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_018351
Tx_version : 4
Tx_start : 95076748
Tx_end : 95217467
Exon_count : 21
Overlapped_tx_length : 140719
Overlapped_CDS_length : 4293
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95076748
Intersect_end : 95217467
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MCRS1Gene_name : MCRS1;
LOEUF_bin : 2
GnomAD_pLI : 1.6561e-01
ExAC_pLI : 6.6536e-02
HI : .
TS : .
DDD_HI_percent : 13.25
ACMG : .
ExAC_cnvZ : 1.09751734511438
ExAC_delZ : 1.23442417482211
ExAC_dupZ : 0.788419187484601
ExAC_synZ : -1.63028817255841
ExAC_misZ : 2.05288243641161
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10445
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_017018690
Tx_version : 2
Tx_start : 49558298
Tx_end : 49568142
Exon_count : 16
Overlapped_tx_length : 9844
Overlapped_CDS_length : 1428
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49558298
Intersect_end : 49568142
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZC3H10Gene_name : ZC3H10;
LOEUF_bin : 3
GnomAD_pLI : 3.1615e-01
ExAC_pLI : 7.9202e-01
HI : .
TS : .
DDD_HI_percent : 29.55
ACMG : .
ExAC_cnvZ : 0.336654190518995
ExAC_delZ : -0.0151788235600143
ExAC_dupZ : 0.308546313058536
ExAC_synZ : -0.632711449270742
ExAC_misZ : 2.77483601131347
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84872
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001303124
Tx_version : 2
Tx_start : 56118265
Tx_end : 56127514
Exon_count : 3
Overlapped_tx_length : 9249
Overlapped_CDS_length : 1305
Overlapped_CDS_percent : 18
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56118265
Intersect_end : 56127514
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DRAM1Gene_name : DRAM1;
LOEUF_bin : 3
GnomAD_pLI : 2.2771e-01
ExAC_pLI : 8.0700e-02
HI : .
TS : .
DDD_HI_percent : 31.09
ACMG : .
ExAC_cnvZ : 0.846057625477823
ExAC_delZ : 0.723182851788098
ExAC_dupZ : 0.608345086368493
ExAC_synZ : 0.00631183135408472
ExAC_misZ : 2.06455090226699
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55332
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_018370
Tx_version : 3
Tx_start : 101877579
Tx_end : 101923612
Exon_count : 7
Overlapped_tx_length : 46033
Overlapped_CDS_length : 717
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101877579
Intersect_end : 101923612
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HSD17B6Gene_name : HSD17B6;
LOEUF_bin : 3
GnomAD_pLI : 3.4807e-01
ExAC_pLI : 3.8199e-01
HI : .
TS : .
DDD_HI_percent : 13.11
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.117356991470095
ExAC_misZ : -0.551921728609147
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8630
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_003725
Tx_version : 4
Tx_start : 56763323
Tx_end : 56787790
Exon_count : 5
Overlapped_tx_length : 24467
Overlapped_CDS_length : 954
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56763323
Intersect_end : 56787790
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPICGene_name : SPIC;
LOEUF_bin : 3
GnomAD_pLI : 3.0668e-01
ExAC_pLI : 1.1841e-01
HI : .
TS : .
DDD_HI_percent : 68.05
ACMG : .
ExAC_cnvZ : 0.250839012348627
ExAC_delZ : -0.512567877014538
ExAC_dupZ : 0.692315446620603
ExAC_synZ : -0.622499022181303
ExAC_misZ : 0.163080443139914
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121599
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_152323
Tx_version : 3
Tx_start : 101475335
Tx_end : 101486997
Exon_count : 6
Overlapped_tx_length : 11662
Overlapped_CDS_length : 747
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101475335
Intersect_end : 101486997
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PIP4K2CGene_name : PIP4K2C;
LOEUF_bin : 3
GnomAD_pLI : 1.8314e-03
ExAC_pLI : 1.3379e-02
HI : .
TS : .
DDD_HI_percent : 36.27
ACMG : .
ExAC_cnvZ : 0.671590620291166
ExAC_delZ : 1.06350574643085
ExAC_dupZ : 0.295885850378005
ExAC_synZ : 0.488481038845259
ExAC_misZ : 1.54620180916019
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79837
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001146258
Tx_version : 2
Tx_start : 57591191
Tx_end : 57603418
Exon_count : 11
Overlapped_tx_length : 12227
Overlapped_CDS_length : 1266
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57591191
Intersect_end : 57603418
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
EID3Gene_name : EID3;
LOEUF_bin : 3
GnomAD_pLI : 4.0761e-01
ExAC_pLI : 2.3761e-01
HI : .
TS : .
DDD_HI_percent : 88.55
ACMG : .
ExAC_cnvZ : -0.61781503273049
ExAC_delZ : 0.474329351879673
ExAC_dupZ : -1.02434648030625
ExAC_synZ : 0.631286749758394
ExAC_misZ : 0.0847359841438306
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 493861
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001008394
Tx_version : 3
Tx_start : 104303738
Tx_end : 104305205
Exon_count : 1
Overlapped_tx_length : 1467
Overlapped_CDS_length : 1002
Overlapped_CDS_percent : 78
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104303738
Intersect_end : 104305205
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ASCL1Gene_name : ASCL1;
LOEUF_bin : 3
GnomAD_pLI : 6.7692e-01
ExAC_pLI : 3.6474e-01
HI : .
TS : .
DDD_HI_percent : 3.46
ACMG : .
ExAC_cnvZ : 0.375024931230988
ExAC_delZ : -0.0244004924191008
ExAC_dupZ : 0.387920799972153
ExAC_synZ : 2.8352808223177
ExAC_misZ : 3.01825936854966
GenCC_disease : Haddad syndrome
GenCC_moi : AD
GenCC_classification : Supportive
GenCC_pmid : NULL
NCBI_gene_ID : 429
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_004316
Tx_version : 4
Tx_start : 102957673
Tx_end : 102960513
Exon_count : 2
Overlapped_tx_length : 2840
Overlapped_CDS_length : 711
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102957673
Intersect_end : 102960513
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.04
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZNF641Gene_name : ZNF641;
LOEUF_bin : 3
GnomAD_pLI : 4.5726e-03
ExAC_pLI : 2.2842e-01
HI : .
TS : .
DDD_HI_percent : 47.1
ACMG : .
ExAC_cnvZ : 0.848178110955003
ExAC_delZ : 0.378319855730135
ExAC_dupZ : 0.75309017315817
ExAC_synZ : 0.101517965314806
ExAC_misZ : 0.577958096408571
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121274
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_152320
Tx_version : 3
Tx_start : 48337179
Tx_end : 48350919
Exon_count : 7
Overlapped_tx_length : 13740
Overlapped_CDS_length : 1317
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48337179
Intersect_end : 48350919
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MPHOSPH9Gene_name : MPHOSPH9;
LOEUF_bin : 3
GnomAD_pLI : 1.6616e-10
ExAC_pLI : 7.5999e-04
HI : .
TS : .
DDD_HI_percent : 47.37
ACMG : .
ExAC_cnvZ : -0.679251879226777
ExAC_delZ : -0.397176816327842
ExAC_dupZ : -0.887728062301986
ExAC_synZ : 1.08504327323265
ExAC_misZ : -0.116304936477145
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10198
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_017018673
Tx_version : 2
Tx_start : 123152323
Tx_end : 123244002
Exon_count : 25
Overlapped_tx_length : 91679
Overlapped_CDS_length : 3552
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123152323
Intersect_end : 123244002
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LGR5Gene_name : LGR5;
LOEUF_bin : 3
GnomAD_pLI : 2.5019e-08
ExAC_pLI : 1.1357e-05
HI : .
TS : .
DDD_HI_percent : 15.1
ACMG : .
ExAC_cnvZ : -0.376906338333388
ExAC_delZ : 0.341659164305674
ExAC_dupZ : -0.747571275118055
ExAC_synZ : 0.042487549055786
ExAC_misZ : -1.28832304107549
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8549
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_003667
Tx_version : 4
Tx_start : 71439797
Tx_end : 71586310
Exon_count : 18
Overlapped_tx_length : 146513
Overlapped_CDS_length : 2724
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71439797
Intersect_end : 71586310
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDX54Gene_name : DDX54;
LOEUF_bin : 3
GnomAD_pLI : 4.7418e-09
ExAC_pLI : 1.0415e-06
HI : .
TS : .
DDD_HI_percent : 57.18
ACMG : .
ExAC_cnvZ : -0.0679692024753708
ExAC_delZ : 0.343345465255656
ExAC_dupZ : -0.265392001700575
ExAC_synZ : -0.0763628683395607
ExAC_misZ : 1.25374691291499
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79039
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001111322
Tx_version : 2
Tx_start : 113157172
Tx_end : 113185478
Exon_count : 20
Overlapped_tx_length : 28306
Overlapped_CDS_length : 2649
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113157172
Intersect_end : 113185478
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PDZRN4Gene_name : PDZRN4;
LOEUF_bin : 3
GnomAD_pLI : 9.1425e-07
ExAC_pLI : 7.0853e-02
HI : .
TS : .
DDD_HI_percent : 33.32
ACMG : .
ExAC_cnvZ : 0.579672650128557
ExAC_delZ : 0.757513976389389
ExAC_dupZ : 0.282025348696221
ExAC_synZ : 0.808242295853336
ExAC_misZ : 0.952578173847176
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29951
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001164595
Tx_version : 2
Tx_start : 41188319
Tx_end : 41574745
Exon_count : 10
Overlapped_tx_length : 386426
Overlapped_CDS_length : 3111
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41188319
Intersect_end : 41574745
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UBCGene_name : UBC;
LOEUF_bin : 3
GnomAD_pLI : 1.4161e-01
ExAC_pLI : 7.0416e-01
HI : .
TS : .
DDD_HI_percent : 0.02
ACMG : .
ExAC_cnvZ : 0.200258656393609
ExAC_delZ : 0.823679416809023
ExAC_dupZ : -0.147666430203572
ExAC_synZ : -0.956516576835584
ExAC_misZ : 6.27248634890221
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7316
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_021009
Tx_version : 7
Tx_start : 124911645
Tx_end : 124914650
Exon_count : 2
Overlapped_tx_length : 3005
Overlapped_CDS_length : 2058
Overlapped_CDS_percent : 99
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124911645
Intersect_end : 124914650
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPAP3Gene_name : RPAP3;
LOEUF_bin : 3
GnomAD_pLI : 6.9941e-05
ExAC_pLI : 1.4031e-01
HI : .
TS : .
DDD_HI_percent : 19.41
ACMG : .
ExAC_cnvZ : 0.279817250525671
ExAC_delZ : -0.297289484758616
ExAC_dupZ : 0.565374654969141
ExAC_synZ : 0.39522092875769
ExAC_misZ : -0.774369905457764
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79657
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_024604
Tx_version : 3
Tx_start : 47661248
Tx_end : 47706030
Exon_count : 17
Overlapped_tx_length : 44782
Overlapped_CDS_length : 1998
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47661248
Intersect_end : 47706030
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LTA4HGene_name : LTA4H;
LOEUF_bin : 3
GnomAD_pLI : 2.9568e-08
ExAC_pLI : 4.9422e-02
HI : .
TS : .
DDD_HI_percent : 26.37
ACMG : .
ExAC_cnvZ : 0.215298606346043
ExAC_delZ : 1.0052682543581
ExAC_dupZ : -0.222752272998088
ExAC_synZ : 0.266929156221139
ExAC_misZ : 0.594130606490527
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4048
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_000895
Tx_version : 3
Tx_start : 96000752
Tx_end : 96035587
Exon_count : 19
Overlapped_tx_length : 34835
Overlapped_CDS_length : 1836
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96000752
Intersect_end : 96035587
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC6A15Gene_name : SLC6A15;
LOEUF_bin : 3
GnomAD_pLI : 6.0384e-04
ExAC_pLI : 2.2626e-03
HI : .
TS : .
DDD_HI_percent : 19.12
ACMG : .
ExAC_cnvZ : 0.314246567400964
ExAC_delZ : -0.460875205686932
ExAC_dupZ : 0.75644976282688
ExAC_synZ : -1.53405648957803
ExAC_misZ : 1.14765038370914
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55117
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_182767
Tx_version : 6
Tx_start : 84859490
Tx_end : 84912799
Exon_count : 12
Overlapped_tx_length : 53309
Overlapped_CDS_length : 2193
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 84859490
Intersect_end : 84912799
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ABCB9Gene_name : ABCB9;
LOEUF_bin : 3
GnomAD_pLI : 2.5164e-04
ExAC_pLI : 2.9011e-03
HI : .
TS : .
DDD_HI_percent : 33.98
ACMG : .
ExAC_cnvZ : -0.0899018842275931
ExAC_delZ : 0.481133217982375
ExAC_dupZ : -0.365986949231359
ExAC_synZ : 0.0853215016483534
ExAC_misZ : 0.742579455656324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23457
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_011538095
Tx_version : 3
Tx_start : 122928991
Tx_end : 122975114
Exon_count : 12
Overlapped_tx_length : 46123
Overlapped_CDS_length : 2301
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122928991
Intersect_end : 122975114
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMBIM6Gene_name : TMBIM6;
LOEUF_bin : 3
GnomAD_pLI : 1.5024e-02
ExAC_pLI : 1.6170e-02
HI : .
TS : .
DDD_HI_percent : 14.57
ACMG : .
ExAC_cnvZ : 1.29929849549511
ExAC_delZ : 1.47297466016855
ExAC_dupZ : 0.917199681545006
ExAC_synZ : -0.484463706564371
ExAC_misZ : 0.811123719648158
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7009
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_005269126
Tx_version : 5
Tx_start : 49741556
Tx_end : 49764934
Exon_count : 11
Overlapped_tx_length : 23378
Overlapped_CDS_length : 888
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49741556
Intersect_end : 49764934
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BTG1Gene_name : BTG1;
LOEUF_bin : 3
GnomAD_pLI : 5.3641e-01
ExAC_pLI : 4.8316e-01
HI : .
TS : .
DDD_HI_percent : 10.06
ACMG : .
ExAC_cnvZ : 0.852407017291512
ExAC_delZ : 0.398634478759615
ExAC_dupZ : 0.751710978812396
ExAC_synZ : -0.259272418338207
ExAC_misZ : 1.42199103781776
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 694
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_001731
Tx_version : 3
Tx_start : 92140277
Tx_end : 92145846
Exon_count : 2
Overlapped_tx_length : 5569
Overlapped_CDS_length : 516
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92140277
Intersect_end : 92145846
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PTPRRGene_name : PTPRR;
LOEUF_bin : 3
GnomAD_pLI : 8.7415e-07
ExAC_pLI : 4.3048e-04
HI : .
TS : .
DDD_HI_percent : 19.75
ACMG : .
ExAC_cnvZ : 1.10013658031582
ExAC_delZ : 0.736400174966979
ExAC_dupZ : 1.0808777914324
ExAC_synZ : -0.776555754824937
ExAC_misZ : -0.521715176438812
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5801
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_002849
Tx_version : 4
Tx_start : 70638078
Tx_end : 70920738
Exon_count : 14
Overlapped_tx_length : 282660
Overlapped_CDS_length : 1974
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70638078
Intersect_end : 70920738
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC6Gene_name : HOXC6;
LOEUF_bin : 3
GnomAD_pLI : 5.1165e-01
ExAC_pLI : 9.0769e-01
HI : .
TS : .
DDD_HI_percent : 1.86
ACMG : .
ExAC_cnvZ : 0.00962755840847435
ExAC_delZ : 0.105038219695132
ExAC_dupZ : -0.0761810777563762
ExAC_synZ : 1.90070449602263
ExAC_misZ : 2.58535179655888
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3223
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_004503
Tx_version : 4
Tx_start : 54028439
Tx_end : 54030823
Exon_count : 2
Overlapped_tx_length : 2384
Overlapped_CDS_length : 708
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54028439
Intersect_end : 54030823
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM120BGene_name : TMEM120B;
LOEUF_bin : 3
GnomAD_pLI : 7.1229e-03
ExAC_pLI : 2.6438e-01
HI : .
TS : .
DDD_HI_percent : 36.06
ACMG : .
ExAC_cnvZ : -0.228317645656776
ExAC_delZ : -1.05100487201686
ExAC_dupZ : 0.357651568638065
ExAC_synZ : 0.170032895104573
ExAC_misZ : 1.42166512200214
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144404
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001080825
Tx_version : 2
Tx_start : 121712751
Tx_end : 121782068
Exon_count : 12
Overlapped_tx_length : 69317
Overlapped_CDS_length : 1020
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121712751
Intersect_end : 121782068
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARPC3Gene_name : ARPC3;
LOEUF_bin : 3
GnomAD_pLI : 2.1578e-01
ExAC_pLI : 9.3151e-01
HI : .
TS : .
DDD_HI_percent : 7.37
ACMG : .
ExAC_cnvZ : -0.339472557789249
ExAC_delZ : 0.264684921550718
ExAC_dupZ : -0.628205948239097
ExAC_synZ : 1.44218445022117
ExAC_misZ : -0.191335560161305
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10094
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001278556
Tx_version : 2
Tx_start : 110434822
Tx_end : 110450337
Exon_count : 7
Overlapped_tx_length : 15515
Overlapped_CDS_length : 537
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110434822
Intersect_end : 110450337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ITGB7Gene_name : ITGB7;
LOEUF_bin : 3
GnomAD_pLI : 2.3661e-06
ExAC_pLI : 2.6542e-03
HI : .
TS : .
DDD_HI_percent : 35.55
ACMG : .
ExAC_cnvZ : 0.851326348354226
ExAC_delZ : 0.690985349812492
ExAC_dupZ : 0.658264583135349
ExAC_synZ : -0.761627815437427
ExAC_misZ : 1.78754938624807
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3695
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_000889
Tx_version : 3
Tx_start : 53191322
Tx_end : 53207251
Exon_count : 16
Overlapped_tx_length : 15929
Overlapped_CDS_length : 2397
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53191322
Intersect_end : 53207251
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BCL7AGene_name : BCL7A;
LOEUF_bin : 3
GnomAD_pLI : 7.8230e-02
ExAC_pLI : 2.1573e-01
HI : .
TS : .
DDD_HI_percent : 40.51
ACMG : .
ExAC_cnvZ : 1.06738428509055
ExAC_delZ : 0.60153178491759
ExAC_dupZ : 0.930753732480629
ExAC_synZ : 1.26204405682002
ExAC_misZ : 0.811296362003719
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 605
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_020993
Tx_version : 5
Tx_start : 122021883
Tx_end : 122062044
Exon_count : 6
Overlapped_tx_length : 40161
Overlapped_CDS_length : 696
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122021883
Intersect_end : 122062044
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TFCP2Gene_name : TFCP2;
LOEUF_bin : 3
GnomAD_pLI : 3.5836e-06
ExAC_pLI : 1.0242e-04
HI : .
TS : .
DDD_HI_percent : 9.23
ACMG : .
ExAC_cnvZ : -0.545921277805353
ExAC_delZ : -2.29464108081411
ExAC_dupZ : 0.940542548851702
ExAC_synZ : 0.572345237206585
ExAC_misZ : 3.00368954506954
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7024
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12-q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_005653
Tx_version : 5
Tx_start : 51093655
Tx_end : 51173135
Exon_count : 15
Overlapped_tx_length : 79480
Overlapped_CDS_length : 1509
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51093655
Intersect_end : 51173135
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BRAPGene_name : BRAP;
LOEUF_bin : 3
GnomAD_pLI : 3.7512e-06
ExAC_pLI : 1.5703e-02
HI : .
TS : .
DDD_HI_percent : 10.27
ACMG : .
ExAC_cnvZ : 0.979319669056132
ExAC_delZ : 0.309855816341055
ExAC_dupZ : 1.10451150862351
ExAC_synZ : 0.294005047876714
ExAC_misZ : 2.42829021442114
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8315
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : 5'UTR-3'UTR
Tx : XM_005253944
Tx_version : 5
Tx_start : 111642145
Tx_end : 111685956
Exon_count : 12
Overlapped_tx_length : 43811
Overlapped_CDS_length : 1902
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111642145
Intersect_end : 111685956
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DTX1Gene_name : DTX1;
LOEUF_bin : 3
GnomAD_pLI : 9.8982e-04
ExAC_pLI : 1.2559e-03
HI : .
TS : .
DDD_HI_percent : 51.18
ACMG : .
ExAC_cnvZ : 0.266739694196045
ExAC_delZ : -0.618440371150917
ExAC_dupZ : 0.791222793322939
ExAC_synZ : 2.98489724444198
ExAC_misZ : 5.0242664727069
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1840
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_004416
Tx_version : 3
Tx_start : 113056729
Tx_end : 113098025
Exon_count : 10
Overlapped_tx_length : 41296
Overlapped_CDS_length : 1863
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113056729
Intersect_end : 113098025
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PAWRGene_name : PAWR;
LOEUF_bin : 3
GnomAD_pLI : 8.9515e-02
ExAC_pLI : 4.4246e-01
HI : .
TS : .
DDD_HI_percent : 67.51
ACMG : .
ExAC_cnvZ : 0.288631244923916
ExAC_delZ : -0.709366710213392
ExAC_dupZ : 0.934808161222043
ExAC_synZ : 0.854776231718507
ExAC_misZ : 0.940899247500592
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5074
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_002583
Tx_version : 4
Tx_start : 79584878
Tx_end : 79690964
Exon_count : 7
Overlapped_tx_length : 106086
Overlapped_CDS_length : 1023
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79584878
Intersect_end : 79690964
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CACNB3Gene_name : CACNB3;
LOEUF_bin : 3
GnomAD_pLI : 2.8915e-04
ExAC_pLI : 4.9584e-02
HI : .
TS : .
DDD_HI_percent : 22.36
ACMG : .
ExAC_cnvZ : 1.24217404963439
ExAC_delZ : 0.76947032581755
ExAC_dupZ : 1.08874689736433
ExAC_synZ : 0.194989478261501
ExAC_misZ : 1.95010572490526
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 784
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047429525
Tx_version : 1
Tx_start : 48814479
Tx_end : 48828941
Exon_count : 15
Overlapped_tx_length : 14462
Overlapped_CDS_length : 1455
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48814479
Intersect_end : 48828941
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TESCGene_name : TESC;
LOEUF_bin : 3
GnomAD_pLI : 1.0778e-01
ExAC_pLI : 6.9214e-01
HI : .
TS : .
DDD_HI_percent : 21.51
ACMG : .
ExAC_cnvZ : 0.221886548161228
ExAC_delZ : 0.324578990859495
ExAC_dupZ : 0.0431395191931527
ExAC_synZ : -0.535987587909241
ExAC_misZ : 1.07529118402585
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54997
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : NM_017899
Tx_version : 4
Tx_start : 117038922
Tx_end : 117099416
Exon_count : 8
Overlapped_tx_length : 60494
Overlapped_CDS_length : 645
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117038922
Intersect_end : 117099416
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDIT3Gene_name : DDIT3;
LOEUF_bin : 3
GnomAD_pLI : 5.9066e-01
ExAC_pLI : 5.1550e-01
HI : .
TS : .
DDD_HI_percent : 8.02
ACMG : .
ExAC_cnvZ : 0.866905589398553
ExAC_delZ : 0.419225524552749
ExAC_dupZ : 0.756083766030382
ExAC_synZ : -0.533094914174922
ExAC_misZ : -0.589480842174978
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1649
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001195053
Tx_version : 1
Tx_start : 57516587
Tx_end : 57520517
Exon_count : 4
Overlapped_tx_length : 3930
Overlapped_CDS_length : 579
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57516587
Intersect_end : 57520517
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARL1Gene_name : ARL1;
LOEUF_bin : 3
GnomAD_pLI : 9.3716e-02
ExAC_pLI : 4.8026e-01
HI : .
TS : .
DDD_HI_percent : 14.32
ACMG : .
ExAC_cnvZ : 0.683972299788578
ExAC_delZ : 0.562512908172033
ExAC_dupZ : 0.467210192721489
ExAC_synZ : 0.778858559618387
ExAC_misZ : 2.29468365632642
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57016
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001177
Tx_version : 6
Tx_start : 101393115
Tx_end : 101407772
Exon_count : 6
Overlapped_tx_length : 14657
Overlapped_CDS_length : 546
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101393115
Intersect_end : 101407772
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRR1Gene_name : KRR1;
LOEUF_bin : 3
GnomAD_pLI : 6.9317e-04
ExAC_pLI : 1.9351e-02
HI : .
TS : .
DDD_HI_percent : 6.76
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.945297766334766
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.718129299171964
ExAC_misZ : -0.677467344316406
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11103
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_007043
Tx_version : 7
Tx_start : 75490862
Tx_end : 75511609
Exon_count : 10
Overlapped_tx_length : 20747
Overlapped_CDS_length : 1146
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75490862
Intersect_end : 75511609
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
USP30Gene_name : USP30;
LOEUF_bin : 3
GnomAD_pLI : 8.2501e-05
ExAC_pLI : 3.0901e-01
HI : .
TS : .
DDD_HI_percent : 50.57
ACMG : .
ExAC_cnvZ : 1.11297158266734
ExAC_delZ : 1.27609280554857
ExAC_dupZ : 0.743496613576796
ExAC_synZ : 0.238066733680306
ExAC_misZ : 1.46361907421849
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84749
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_017020048
Tx_version : 2
Tx_start : 109052575
Tx_end : 109088023
Exon_count : 13
Overlapped_tx_length : 35448
Overlapped_CDS_length : 1665
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109052575
Intersect_end : 109088023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IL23AGene_name : IL23A;
LOEUF_bin : 3
GnomAD_pLI : 3.5806e-01
ExAC_pLI : 8.4244e-01
HI : .
TS : .
DDD_HI_percent : 30.91
ACMG : .
ExAC_cnvZ : 0.9374137224941
ExAC_delZ : 0.467056042525277
ExAC_dupZ : 0.828013348255952
ExAC_synZ : 0.173985207038693
ExAC_misZ : -0.00203564645387621
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51561
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_016584
Tx_version : 3
Tx_start : 56338883
Tx_end : 56340410
Exon_count : 4
Overlapped_tx_length : 1527
Overlapped_CDS_length : 570
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56338883
Intersect_end : 56340410
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TXNRD1Gene_name : TXNRD1;
LOEUF_bin : 3
GnomAD_pLI : 1.6062e-06
ExAC_pLI : 2.3375e-03
HI : .
TS : .
DDD_HI_percent : 40.04
ACMG : .
ExAC_cnvZ : -0.921779623857746
ExAC_delZ : -0.536334703461815
ExAC_dupZ : -1.07182415193518
ExAC_synZ : 1.29042173878669
ExAC_misZ : -0.125685708536784
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7296
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001093771
Tx_version : 3
Tx_start : 104215778
Tx_end : 104350307
Exon_count : 17
Overlapped_tx_length : 134529
Overlapped_CDS_length : 1950
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104215778
Intersect_end : 104350307
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZNF740Gene_name : ZNF740;
LOEUF_bin : 3
GnomAD_pLI : 1.8968e-01
ExAC_pLI : 6.5375e-01
HI : .
TS : .
DDD_HI_percent : 17.97
ACMG : .
ExAC_cnvZ : 0.38854384640755
ExAC_delZ : 0.210921012172331
ExAC_dupZ : 0.287070996981878
ExAC_synZ : 0.329641783594946
ExAC_misZ : 0.850772898580988
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283337
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001004304
Tx_version : 4
Tx_start : 53180721
Tx_end : 53195142
Exon_count : 7
Overlapped_tx_length : 14421
Overlapped_CDS_length : 582
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53180721
Intersect_end : 53195142
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AMN1Gene_name : AMN1;
LOEUF_bin : 3
GnomAD_pLI : 3.2526e-01
ExAC_pLI : 2.0103e-02
HI : .
TS : .
DDD_HI_percent : 55.7
ACMG : .
ExAC_cnvZ : 0.611467883690765
ExAC_delZ : -0.0576374277715129
ExAC_dupZ : 0.797551655820256
ExAC_synZ : 0.504393652500024
ExAC_misZ : 0.934691719583174
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196394
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001113402
Tx_version : 2
Tx_start : 31671141
Tx_end : 31729021
Exon_count : 7
Overlapped_tx_length : 57880
Overlapped_CDS_length : 777
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31671141
Intersect_end : 31729021
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ABCD2Gene_name : ABCD2;
LOEUF_bin : 3
GnomAD_pLI : 4.7079e-06
ExAC_pLI : 2.9698e-06
HI : .
TS : .
DDD_HI_percent : 39.2
ACMG : .
ExAC_cnvZ : -0.071807743743491
ExAC_delZ : 0.932390604637237
ExAC_dupZ : -0.55973594063236
ExAC_synZ : -0.597466061640862
ExAC_misZ : 2.3422670276704
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 225
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_005164
Tx_version : 4
Tx_start : 39550032
Tx_end : 39619803
Exon_count : 10
Overlapped_tx_length : 69771
Overlapped_CDS_length : 2223
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39550032
Intersect_end : 39619803
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
METAP2Gene_name : METAP2;
LOEUF_bin : 3
GnomAD_pLI : 3.9908e-03
ExAC_pLI : 9.0638e-01
HI : .
TS : .
DDD_HI_percent : 3.37
ACMG : .
ExAC_cnvZ : 1.03105501746901
ExAC_delZ : 1.19959147344569
ExAC_dupZ : 0.686398576666461
ExAC_synZ : -0.661691862637164
ExAC_misZ : 2.77552216932301
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10988
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_006838
Tx_version : 4
Tx_start : 95474151
Tx_end : 95515839
Exon_count : 11
Overlapped_tx_length : 41688
Overlapped_CDS_length : 1437
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95474151
Intersect_end : 95515839
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAB21Gene_name : RAB21;
LOEUF_bin : 3
GnomAD_pLI : 1.1110e-01
ExAC_pLI : 8.8234e-01
HI : .
TS : .
DDD_HI_percent : 13.26
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.52733976374708
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.29613923967396
ExAC_misZ : 0.666165631373846
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23011
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_014999
Tx_version : 4
Tx_start : 71754862
Tx_end : 71800286
Exon_count : 7
Overlapped_tx_length : 45424
Overlapped_CDS_length : 678
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71754862
Intersect_end : 71800286
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CTDSP2Gene_name : CTDSP2;
LOEUF_bin : 3
GnomAD_pLI : 1.1425e-01
ExAC_pLI : 3.9767e-01
HI : .
TS : .
DDD_HI_percent : 13.56
ACMG : .
ExAC_cnvZ : -0.30145637794984
ExAC_delZ : -0.53727936778781
ExAC_dupZ : -0.140347266223833
ExAC_synZ : 0.258709488687683
ExAC_misZ : 1.70588825110132
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10106
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_005268556
Tx_version : 3
Tx_start : 57819926
Tx_end : 57846729
Exon_count : 8
Overlapped_tx_length : 26803
Overlapped_CDS_length : 834
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57819926
Intersect_end : 57846729
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TSPAN31Gene_name : TSPAN31;
LOEUF_bin : 3
GnomAD_pLI : 2.1925e-01
ExAC_pLI : 3.2726e-01
HI : .
TS : .
DDD_HI_percent : 41.84
ACMG : .
ExAC_cnvZ : -1.78700844097365
ExAC_delZ : -2.09493606869518
ExAC_dupZ : -1.682808711395
ExAC_synZ : 0.766523108242074
ExAC_misZ : 0.877083630545376
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6302
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_005981
Tx_version : 5
Tx_start : 57745038
Tx_end : 57750219
Exon_count : 6
Overlapped_tx_length : 5181
Overlapped_CDS_length : 633
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57745038
Intersect_end : 57750219
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CD63Gene_name : CD63;
LOEUF_bin : 4
GnomAD_pLI : 1.7439e-02
ExAC_pLI : 7.1608e-03
HI : .
TS : .
DDD_HI_percent : 68.15
ACMG : .
ExAC_cnvZ : 0.896774966675364
ExAC_delZ : 0.754586084702843
ExAC_dupZ : 0.669358390163655
ExAC_synZ : 0.492603382982457
ExAC_misZ : 0.958002249576241
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 967
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001413284
Tx_version : 1
Tx_start : 55723534
Tx_end : 55729009
Exon_count : 9
Overlapped_tx_length : 5475
Overlapped_CDS_length : 717
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55723534
Intersect_end : 55729009
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
13P_snvindel_nb : 13
P_snvindel_phen : Congenital_stationary_night_blindness; Fundus_albipunctatus,_autosomal_recessive; Pigmentary_retinal_dystrophy; RDH5-related_condition; Retinal_dystrophy; Retinitis_punctata_albescens; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PIWIL1Gene_name : PIWIL1;
LOEUF_bin : 4
GnomAD_pLI : 7.2798e-14
ExAC_pLI : 2.1258e-07
HI : .
TS : .
DDD_HI_percent : 51.58
ACMG : .
ExAC_cnvZ : -1.52243930401407
ExAC_delZ : -0.226139052835922
ExAC_dupZ : -2.06632346033158
ExAC_synZ : -0.558413735644636
ExAC_misZ : 3.10298598060469
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9271
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_004764
Tx_version : 5
Tx_start : 130337886
Tx_end : 130372637
Exon_count : 21
Overlapped_tx_length : 34751
Overlapped_CDS_length : 2586
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130337886
Intersect_end : 130372637
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM117Gene_name : TMEM117;
LOEUF_bin : 4
GnomAD_pLI : 2.9608e-06
ExAC_pLI : 3.5742e-05
HI : .
TS : .
DDD_HI_percent : 12.8
ACMG : .
ExAC_cnvZ : 0.405702655748648
ExAC_delZ : 0.110609011097513
ExAC_dupZ : 0.478492748516096
ExAC_synZ : 0.398199750989567
ExAC_misZ : 1.03034641448507
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84216
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_047429662
Tx_version : 1
Tx_start : 43795801
Tx_end : 44389758
Exon_count : 9
Overlapped_tx_length : 593957
Overlapped_CDS_length : 1545
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 43795801
Intersect_end : 44389758
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf75Gene_name : C12orf75;
LOEUF_bin : 4
GnomAD_pLI : 6.3977e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 61.78
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387882
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001145199
Tx_version : 2
Tx_start : 105330690
Tx_end : 105371518
Exon_count : 6
Overlapped_tx_length : 40828
Overlapped_CDS_length : 192
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105330690
Intersect_end : 105371518
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TESPA1Gene_name : TESPA1;
LOEUF_bin : 4
GnomAD_pLI : 4.6856e-06
ExAC_pLI : 1.9152e-05
HI : .
TS : .
DDD_HI_percent : 67.07
ACMG : .
ExAC_cnvZ : 0.0422440616352352
ExAC_delZ : -0.783496288282675
ExAC_dupZ : 0.57754568285999
ExAC_synZ : 0.195603899268146
ExAC_misZ : 0.0585772979129123
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9840
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : XM_047429930
Tx_version : 1
Tx_start : 54948014
Tx_end : 54985188
Exon_count : 12
Overlapped_tx_length : 37174
Overlapped_CDS_length : 1566
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54948014
Intersect_end : 54985188
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
STAB2Gene_name : STAB2;
LOEUF_bin : 4
GnomAD_pLI : 9.2343e-62
ExAC_pLI : 4.1757e-28
HI : .
TS : .
DDD_HI_percent : 79.86
ACMG : .
ExAC_cnvZ : -0.888500367818853
ExAC_delZ : -2.24547816004925
ExAC_dupZ : -0.32099081390712
ExAC_synZ : 0.446962863482701
ExAC_misZ : -1.51550492688902
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55576
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_017564
Tx_version : 10
Tx_start : 103587272
Tx_end : 103766719
Exon_count : 69
Overlapped_tx_length : 179447
Overlapped_CDS_length : 7656
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103587272
Intersect_end : 103766719
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MGAT4CGene_name : MGAT4C;
LOEUF_bin : 4
GnomAD_pLI : 6.6172e-04
ExAC_pLI : 1.1169e-02
HI : .
TS : .
DDD_HI_percent : 19.09
ACMG : .
ExAC_cnvZ : 1.01833528593976
ExAC_delZ : 0.75826246174187
ExAC_dupZ : 0.763772059910448
ExAC_synZ : 0.464607361434275
ExAC_misZ : 1.21990950966312
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25834
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_001351282
Tx_version : 2
Tx_start : 85955666
Tx_end : 86256391
Exon_count : 6
Overlapped_tx_length : 300725
Overlapped_CDS_length : 1551
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85955666
Intersect_end : 86256391
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RNFT2Gene_name : RNFT2;
LOEUF_bin : 4
GnomAD_pLI : 1.2018e-05
ExAC_pLI : 7.9071e-01
HI : .
TS : .
DDD_HI_percent : 45.39
ACMG : .
ExAC_cnvZ : -0.158018641831581
ExAC_delZ : 0.407381219087561
ExAC_dupZ : -0.42623090344497
ExAC_synZ : -0.519483821379336
ExAC_misZ : 0.636617678133976
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84900
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : XM_047429745
Tx_version : 1
Tx_start : 116738314
Tx_end : 116853631
Exon_count : 11
Overlapped_tx_length : 115317
Overlapped_CDS_length : 1368
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116738314
Intersect_end : 116853631
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TRAFD1Gene_name : TRAFD1;
LOEUF_bin : 4
GnomAD_pLI : 1.9412e-08
ExAC_pLI : 1.8269e-05
HI : .
TS : .
DDD_HI_percent : 58.98
ACMG : .
ExAC_cnvZ : 0.580075946626142
ExAC_delZ : 0.432383953885255
ExAC_dupZ : 0.503869877470873
ExAC_synZ : 0.653996807139839
ExAC_misZ : -0.409962288836089
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10906
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001143906
Tx_version : 2
Tx_start : 112125559
Tx_end : 112153604
Exon_count : 12
Overlapped_tx_length : 28045
Overlapped_CDS_length : 1749
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112125559
Intersect_end : 112153604
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAM186AGene_name : FAM186A;
LOEUF_bin : 4
GnomAD_pLI : 8.3001e-27
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 95.21
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121006
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001145475
Tx_version : 3
Tx_start : 50327308
Tx_end : 50396609
Exon_count : 8
Overlapped_tx_length : 69301
Overlapped_CDS_length : 7056
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50327308
Intersect_end : 50396609
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR10A7Gene_name : OR10A7;
LOEUF_bin : 4
GnomAD_pLI : 4.3751e-01
ExAC_pLI : 2.6810e-01
HI : .
TS : .
DDD_HI_percent : 81.04
ACMG : .
ExAC_cnvZ : 0.18811991032058
ExAC_delZ : 0.929307191240939
ExAC_dupZ : -0.229919335744597
ExAC_synZ : -0.817765213762691
ExAC_misZ : -1.98133414606736
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121364
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005280
Tx_version : 1
Tx_start : 55221024
Tx_end : 55221975
Exon_count : 1
Overlapped_tx_length : 951
Overlapped_CDS_length : 951
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55221024
Intersect_end : 55221975
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:55214216-55225716
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRKAG1Gene_name : PRKAG1;
LOEUF_bin : 4
GnomAD_pLI : 3.6224e-05
ExAC_pLI : 1.6371e-03
HI : .
TS : .
DDD_HI_percent : 12.6
ACMG : .
ExAC_cnvZ : -0.701498368600193
ExAC_delZ : 1.89951512592042
ExAC_dupZ : -1.5862201370227
ExAC_synZ : 0.140930553310557
ExAC_misZ : 1.96433745847547
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5571
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001206709
Tx_version : 2
Tx_start : 49002273
Tx_end : 49018776
Exon_count : 12
Overlapped_tx_length : 16503
Overlapped_CDS_length : 1023
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49002273
Intersect_end : 49018776
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
VPS37BGene_name : VPS37B;
LOEUF_bin : 4
GnomAD_pLI : 5.8263e-02
ExAC_pLI : 6.7681e-01
HI : .
TS : .
DDD_HI_percent : 65.11
ACMG : .
ExAC_cnvZ : 0.544568600795989
ExAC_delZ : 0.398843034668076
ExAC_dupZ : 0.393069824634052
ExAC_synZ : 0.108583026418489
ExAC_misZ : 0.606848468921438
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79720
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_011538743
Tx_version : 3
Tx_start : 122865329
Tx_end : 122896124
Exon_count : 5
Overlapped_tx_length : 30795
Overlapped_CDS_length : 1035
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122865329
Intersect_end : 122896124
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C1QL4Gene_name : C1QL4;
LOEUF_bin : 4
GnomAD_pLI : 4.2440e-01
ExAC_pLI : 6.2118e-01
HI : .
TS : .
DDD_HI_percent : 49.86
ACMG : .
ExAC_cnvZ : 0.476674608046832
ExAC_delZ : 0.355439574726576
ExAC_dupZ : 0.401311264627008
ExAC_synZ : 1.66615245844961
ExAC_misZ : 2.03148054426531
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338761
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001008223
Tx_version : 2
Tx_start : 49332408
Tx_end : 49337188
Exon_count : 2
Overlapped_tx_length : 4780
Overlapped_CDS_length : 717
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49332408
Intersect_end : 49337188
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FZD10Gene_name : FZD10;
LOEUF_bin : 4
GnomAD_pLI : 5.2847e-04
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 34.56
ACMG : .
ExAC_cnvZ : 0.319960733753947
ExAC_delZ : 0.0214368957981222
ExAC_dupZ : 0.282678576053499
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11211
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_007197
Tx_version : 4
Tx_start : 130162463
Tx_end : 130165740
Exon_count : 1
Overlapped_tx_length : 3277
Overlapped_CDS_length : 1746
Overlapped_CDS_percent : 62
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130162463
Intersect_end : 130165740
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NEUROD4Gene_name : NEUROD4;
LOEUF_bin : 4
GnomAD_pLI : 9.7046e-02
ExAC_pLI : 1.4055e-01
HI : .
TS : .
DDD_HI_percent : 18.65
ACMG : .
ExAC_cnvZ : 1.05242692005992
ExAC_delZ : 1.07060674191617
ExAC_dupZ : 0.758661416800177
ExAC_synZ : -1.23503118814934
ExAC_misZ : -1.53148681323907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 58158
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_021191
Tx_version : 3
Tx_start : 55019973
Tx_end : 55030017
Exon_count : 2
Overlapped_tx_length : 10044
Overlapped_CDS_length : 996
Overlapped_CDS_percent : 27
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55019973
Intersect_end : 55030017
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NXPH4Gene_name : NXPH4;
LOEUF_bin : 4
GnomAD_pLI : 2.2997e-01
ExAC_pLI : 4.6210e-01
HI : .
TS : .
DDD_HI_percent : 57.76
ACMG : .
ExAC_cnvZ : 0.411605168943786
ExAC_delZ : -0.0407702888972427
ExAC_dupZ : 0.422777187876373
ExAC_synZ : 2.11618444967823
ExAC_misZ : 3.05870131315724
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11247
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_007224
Tx_version : 4
Tx_start : 57216793
Tx_end : 57226449
Exon_count : 2
Overlapped_tx_length : 9656
Overlapped_CDS_length : 927
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57216793
Intersect_end : 57226449
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC16A7Gene_name : SLC16A7;
LOEUF_bin : 4
GnomAD_pLI : 5.8162e-03
ExAC_pLI : 1.7858e-03
HI : .
TS : .
DDD_HI_percent : 68.25
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.451531634792241
ExAC_misZ : -0.848983136492419
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9194
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_011538989
Tx_version : 3
Tx_start : 59596028
Tx_end : 59789841
Exon_count : 7
Overlapped_tx_length : 193813
Overlapped_CDS_length : 1515
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 59596028
Intersect_end : 59789841
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:59445875-60579362
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZBTB39Gene_name : ZBTB39;
LOEUF_bin : 4
GnomAD_pLI : 1.8848e-04
ExAC_pLI : 9.7309e-03
HI : .
TS : .
DDD_HI_percent : 37.91
ACMG : .
ExAC_cnvZ : 0.495948789508995
ExAC_delZ : 0.239132821997829
ExAC_dupZ : 0.39932979941637
ExAC_synZ : 0.103939516995699
ExAC_misZ : -0.482126644515452
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9880
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_014830
Tx_version : 3
Tx_start : 56998835
Tx_end : 57006546
Exon_count : 2
Overlapped_tx_length : 7711
Overlapped_CDS_length : 2139
Overlapped_CDS_percent : 97
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56998835
Intersect_end : 57006546
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TWF1Gene_name : TWF1;
LOEUF_bin : 4
GnomAD_pLI : 2.0870e-05
ExAC_pLI : 7.9637e-03
HI : .
TS : .
DDD_HI_percent : 19.2
ACMG : .
ExAC_cnvZ : 0.560007180031079
ExAC_delZ : 0.171836078375656
ExAC_dupZ : 0.598714211922053
ExAC_synZ : 0.994587462241109
ExAC_misZ : 0.710965953969985
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5756
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001242397
Tx_version : 2
Tx_start : 43793722
Tx_end : 43806317
Exon_count : 10
Overlapped_tx_length : 12595
Overlapped_CDS_length : 1074
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 43793722
Intersect_end : 43806317
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CHPT1Gene_name : CHPT1;
LOEUF_bin : 4
GnomAD_pLI : 2.4252e-04
ExAC_pLI : 3.5705e-03
HI : .
TS : .
DDD_HI_percent : 38.73
ACMG : .
ExAC_cnvZ : 0.617801632761294
ExAC_delZ : 0.235148315531047
ExAC_dupZ : 0.643480952007403
ExAC_synZ : 0.571460650482808
ExAC_misZ : 0.729123069043302
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56994
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_020244
Tx_version : 3
Tx_start : 101697639
Tx_end : 101729074
Exon_count : 9
Overlapped_tx_length : 31435
Overlapped_CDS_length : 1221
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101697639
Intersect_end : 101729074
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAIM2Gene_name : FAIM2;
LOEUF_bin : 4
GnomAD_pLI : 8.7012e-05
ExAC_pLI : 6.1935e-01
HI : .
TS : .
DDD_HI_percent : 34.67
ACMG : .
ExAC_cnvZ : 0.193153309762308
ExAC_delZ : 0.431567331431883
ExAC_dupZ : 0.047234006006689
ExAC_synZ : -0.438864559800253
ExAC_misZ : 0.69388102354425
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23017
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_012306
Tx_version : 4
Tx_start : 49866895
Tx_end : 49903900
Exon_count : 12
Overlapped_tx_length : 37005
Overlapped_CDS_length : 951
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49866895
Intersect_end : 49903900
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPHLN1Gene_name : PPHLN1;
LOEUF_bin : 4
GnomAD_pLI : 3.3043e-08
ExAC_pLI : 7.5810e-05
HI : .
TS : .
DDD_HI_percent : 24.32
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.00668502880108233
ExAC_misZ : 0.276227551456514
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51535
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_017019434
Tx_version : 2
Tx_start : 42326166
Tx_end : 42448621
Exon_count : 13
Overlapped_tx_length : 122455
Overlapped_CDS_length : 1524
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42326166
Intersect_end : 42448621
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TUBA1CGene_name : TUBA1C;
LOEUF_bin : 4
GnomAD_pLI : 7.4331e-03
ExAC_pLI : 8.4015e-01
HI : .
TS : .
DDD_HI_percent : 25.79
ACMG : .
ExAC_cnvZ : 0.341770013363577
ExAC_delZ : -0.228667744109485
ExAC_dupZ : 0.659045220943218
ExAC_synZ : 1.36960451891922
ExAC_misZ : 4.16615037655272
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84790
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001303114
Tx_version : 1
Tx_start : 49227925
Tx_end : 49273338
Exon_count : 4
Overlapped_tx_length : 45413
Overlapped_CDS_length : 1560
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49227925
Intersect_end : 49273338
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf50Gene_name : C12orf50;
LOEUF_bin : 4
GnomAD_pLI : 4.7252e-07
ExAC_pLI : 1.5445e-04
HI : .
TS : .
DDD_HI_percent : 30.09
ACMG : .
ExAC_cnvZ : 0.053709385114034
ExAC_delZ : 0.328421384676411
ExAC_dupZ : -0.150520574069433
ExAC_synZ : -0.731458485483864
ExAC_misZ : -1.13161252431778
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160419
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : 5'UTR-3'UTR
Tx : XM_017018887
Tx_version : 2
Tx_start : 87980034
Tx_end : 88029401
Exon_count : 13
Overlapped_tx_length : 49367
Overlapped_CDS_length : 1407
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87980034
Intersect_end : 88029401
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CPMGene_name : CPM;
LOEUF_bin : 4
GnomAD_pLI : 1.6604e-05
ExAC_pLI : 8.0712e-07
HI : .
TS : .
DDD_HI_percent : 62.26
ACMG : .
ExAC_cnvZ : -0.475500395625929
ExAC_delZ : 0.834868061365599
ExAC_dupZ : -0.998055856547322
ExAC_synZ : -0.162793929493817
ExAC_misZ : 1.7847712799343
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1368
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_001413387
Tx_version : 1
Tx_start : 68851174
Tx_end : 68933171
Exon_count : 9
Overlapped_tx_length : 81997
Overlapped_CDS_length : 1368
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68851174
Intersect_end : 68933171
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LALBAGene_name : LALBA;
LOEUF_bin : 4
GnomAD_pLI : 4.6030e-01
ExAC_pLI : 3.9595e-01
HI : .
TS : .
DDD_HI_percent : 79.41
ACMG : .
ExAC_cnvZ : 0.616256352359316
ExAC_delZ : 0.466171279587857
ExAC_dupZ : 0.434572122464248
ExAC_synZ : 0.338923024315309
ExAC_misZ : 0.735417755477938
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3906
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001384350
Tx_version : 1
Tx_start : 48567683
Tx_end : 48571845
Exon_count : 5
Overlapped_tx_length : 4162
Overlapped_CDS_length : 429
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48567683
Intersect_end : 48571845
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:48564877-48573109
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARHGAP9Gene_name : ARHGAP9;
LOEUF_bin : 4
GnomAD_pLI : 3.9385e-11
ExAC_pLI : 2.8913e-09
HI : .
TS : .
DDD_HI_percent : 63.22
ACMG : .
ExAC_cnvZ : 0.00855970446923829
ExAC_delZ : -0.226707262050756
ExAC_dupZ : 0.129194970683592
ExAC_synZ : 0.987264025653942
ExAC_misZ : 0.584098079198897
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64333
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_047429329
Tx_version : 1
Tx_start : 57472268
Tx_end : 57488824
Exon_count : 20
Overlapped_tx_length : 16556
Overlapped_CDS_length : 2397
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57472268
Intersect_end : 57488824
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GTSF1Gene_name : GTSF1;
LOEUF_bin : 4
GnomAD_pLI : 2.2144e-02
ExAC_pLI : 5.1338e-01
HI : .
TS : .
DDD_HI_percent : 5.22
ACMG : .
ExAC_cnvZ : 0.814386337647642
ExAC_delZ : 0.67089407016841
ExAC_dupZ : 0.593608951468359
ExAC_synZ : -0.116507624151109
ExAC_misZ : 0.270206324330587
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121355
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_144594
Tx_version : 3
Tx_start : 54455956
Tx_end : 54473602
Exon_count : 9
Overlapped_tx_length : 17646
Overlapped_CDS_length : 504
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54455956
Intersect_end : 54473602
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARHGEF25Gene_name : ARHGEF25;
LOEUF_bin : 4
GnomAD_pLI : 2.9481e-10
ExAC_pLI : 5.1761e-06
HI : .
TS : .
DDD_HI_percent : 49.98
ACMG : .
ExAC_cnvZ : 0.470837048751868
ExAC_delZ : 0.829212669731852
ExAC_dupZ : 0.161903601962656
ExAC_synZ : 0.276863699997032
ExAC_misZ : 0.483794310029637
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 115557
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001111270
Tx_version : 3
Tx_start : 57610115
Tx_end : 57617245
Exon_count : 16
Overlapped_tx_length : 7130
Overlapped_CDS_length : 1860
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57610115
Intersect_end : 57617245
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C1Gene_name : OR6C1;
LOEUF_bin : 4
GnomAD_pLI : 5.0471e-01
ExAC_pLI : 1.2386e-02
HI : .
TS : .
DDD_HI_percent : 76.52
ACMG : .
ExAC_cnvZ : -0.681680350743171
ExAC_delZ : 0.394047108259866
ExAC_dupZ : -1.08359176080927
ExAC_synZ : -1.79732563011627
ExAC_misZ : -1.76037465073451
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 390321
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005182
Tx_version : 2
Tx_start : 55314342
Tx_end : 55322364
Exon_count : 2
Overlapped_tx_length : 8022
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 53
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55314342
Intersect_end : 55322364
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:55310583-55331520; chr12:55310668-55331605
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLTPGene_name : GLTP;
LOEUF_bin : 4
GnomAD_pLI : 1.1475e-01
ExAC_pLI : 2.2709e-01
HI : .
TS : .
DDD_HI_percent : 35.68
ACMG : .
ExAC_cnvZ : 1.06559169067742
ExAC_delZ : 0.710003477108215
ExAC_dupZ : 1.03433924956729
ExAC_synZ : 1.19036047546647
ExAC_misZ : 1.08739446501664
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51228
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_016433
Tx_version : 4
Tx_start : 109850944
Tx_end : 109880541
Exon_count : 5
Overlapped_tx_length : 29597
Overlapped_CDS_length : 630
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109850944
Intersect_end : 109880541
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NT5DC3Gene_name : NT5DC3;
LOEUF_bin : 4
GnomAD_pLI : 1.4702e-07
ExAC_pLI : 1.1240e-04
HI : .
TS : .
DDD_HI_percent : 51.45
ACMG : .
ExAC_cnvZ : 0.158259683639939
ExAC_delZ : 0.15363444741603
ExAC_dupZ : 0.0890060429788458
ExAC_synZ : 0.542963080694703
ExAC_misZ : 1.8139013456984
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51559
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001031701
Tx_version : 3
Tx_start : 103772309
Tx_end : 103841234
Exon_count : 14
Overlapped_tx_length : 68925
Overlapped_CDS_length : 1647
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103772309
Intersect_end : 103841234
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MFSD5Gene_name : MFSD5;
LOEUF_bin : 4
GnomAD_pLI : 2.3254e-03
ExAC_pLI : 1.0247e-01
HI : .
TS : .
DDD_HI_percent : 60.3
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.34562993965521
ExAC_misZ : 0.788895789288349
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84975
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_005269197
Tx_version : 2
Tx_start : 53251196
Tx_end : 53254406
Exon_count : 3
Overlapped_tx_length : 3210
Overlapped_CDS_length : 1674
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53251196
Intersect_end : 53254406
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANAPC5Gene_name : ANAPC5;
LOEUF_bin : 4
GnomAD_pLI : 1.6499e-09
ExAC_pLI : 4.1800e-05
HI : .
TS : .
DDD_HI_percent : 12.09
ACMG : .
ExAC_cnvZ : 0.159969077811714
ExAC_delZ : -0.0507912867679343
ExAC_dupZ : 0.220275633167086
ExAC_synZ : 1.08501349879947
ExAC_misZ : 3.0596684709515
GenCC_disease : schizophrenia
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : 28195569
NCBI_gene_ID : 51433
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_016237
Tx_version : 5
Tx_start : 121308244
Tx_end : 121352411
Exon_count : 17
Overlapped_tx_length : 44167
Overlapped_CDS_length : 2268
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121308244
Intersect_end : 121352411
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACACBGene_name : ACACB;
LOEUF_bin : 4
GnomAD_pLI : 7.6499e-47
ExAC_pLI : 5.1243e-22
HI : .
TS : .
DDD_HI_percent : 49.54
ACMG : .
ExAC_cnvZ : -0.863726993954156
ExAC_delZ : 1.96709057490021
ExAC_dupZ : -1.76075206069861
ExAC_synZ : 0.677907740598294
ExAC_misZ : 1.33897157870072
GenCC_disease : isolated cleft palate
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 28767323
NCBI_gene_ID : 32
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001412734
Tx_version : 1
Tx_start : 109111188
Tx_end : 109268226
Exon_count : 54
Overlapped_tx_length : 157038
Overlapped_CDS_length : 7377
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109111188
Intersect_end : 109268226
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GALNT6Gene_name : GALNT6;
LOEUF_bin : 4
GnomAD_pLI : 1.4162e-09
ExAC_pLI : 1.6584e-06
HI : .
TS : .
DDD_HI_percent : 59.9
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.431884881068468
ExAC_misZ : 0.577862129932789
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11226
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_005268607
Tx_version : 2
Tx_start : 51351251
Tx_end : 51391673
Exon_count : 12
Overlapped_tx_length : 40422
Overlapped_CDS_length : 1869
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51351251
Intersect_end : 51391673
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LIMA1Gene_name : LIMA1;
LOEUF_bin : 4
GnomAD_pLI : 2.7465e-10
ExAC_pLI : 1.2836e-07
HI : .
TS : .
DDD_HI_percent : 55.38
ACMG : .
ExAC_cnvZ : 1.2537671961937
ExAC_delZ : 0.902769984038571
ExAC_dupZ : 1.19924738109655
ExAC_synZ : -1.05173870461276
ExAC_misZ : 0.550143547770295
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51474
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001113546
Tx_version : 2
Tx_start : 50175787
Tx_end : 50283520
Exon_count : 11
Overlapped_tx_length : 107733
Overlapped_CDS_length : 2283
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50175787
Intersect_end : 50283520
608364; OMIM_ID : 608364;
OMIM_phenotype : [Low density lipoprotein cholesterol level QTL 8], 618079 (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PUS7LGene_name : PUS7L;
LOEUF_bin : 4
GnomAD_pLI : 2.5859e-06
ExAC_pLI : 1.5698e-06
HI : .
TS : .
DDD_HI_percent : 68.51
ACMG : .
ExAC_cnvZ : -0.109599052706083
ExAC_delZ : -0.68383962625906
ExAC_dupZ : 0.236953767452989
ExAC_synZ : -0.372734806503004
ExAC_misZ : -1.80519040296255
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83448
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_011538790
Tx_version : 4
Tx_start : 43718991
Tx_end : 43758790
Exon_count : 9
Overlapped_tx_length : 39799
Overlapped_CDS_length : 2133
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 43718991
Intersect_end : 43758790
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAB5BGene_name : RAB5B;
LOEUF_bin : 4
GnomAD_pLI : 2.6434e-02
ExAC_pLI : 2.1570e-01
HI : .
TS : .
DDD_HI_percent : 17.76
ACMG : .
ExAC_cnvZ : 0.993714958794849
ExAC_delZ : 0.528651415350498
ExAC_dupZ : 0.865243047724575
ExAC_synZ : -0.866323043629077
ExAC_misZ : 1.55186500145649
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5869
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001414458
Tx_version : 1
Tx_start : 55974077
Tx_end : 55996683
Exon_count : 7
Overlapped_tx_length : 22606
Overlapped_CDS_length : 891
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55974077
Intersect_end : 55996683
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RBMS2Gene_name : RBMS2;
LOEUF_bin : 4
GnomAD_pLI : 1.3611e-06
ExAC_pLI : 2.9148e-03
HI : .
TS : .
DDD_HI_percent : 35.79
ACMG : .
ExAC_cnvZ : 0.881104746184817
ExAC_delZ : 0.0281316891025088
ExAC_dupZ : 1.25521739225994
ExAC_synZ : 0.159066282160918
ExAC_misZ : 1.06331607608678
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5939
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : XM_006719541
Tx_version : 5
Tx_start : 56521819
Tx_end : 56595600
Exon_count : 14
Overlapped_tx_length : 73781
Overlapped_CDS_length : 1434
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56521819
Intersect_end : 56595600
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TROAPGene_name : TROAP;
LOEUF_bin : 4
GnomAD_pLI : 3.5061e-11
ExAC_pLI : 3.0201e-07
HI : .
TS : .
DDD_HI_percent : 66.6
ACMG : .
ExAC_cnvZ : 1.25948380117261
ExAC_delZ : 1.41870335903185
ExAC_dupZ : 0.908789885052148
ExAC_synZ : 0.253972074562424
ExAC_misZ : 0.110165238646731
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10024
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001410976
Tx_version : 1
Tx_start : 49323254
Tx_end : 49331731
Exon_count : 14
Overlapped_tx_length : 8477
Overlapped_CDS_length : 2607
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49323254
Intersect_end : 49331731
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZCRB1Gene_name : ZCRB1;
LOEUF_bin : 4
GnomAD_pLI : 3.5488e-03
ExAC_pLI : 9.5394e-04
HI : .
TS : .
DDD_HI_percent : 19.23
ACMG : .
ExAC_cnvZ : 0.827382325983536
ExAC_delZ : 0.174356345646072
ExAC_dupZ : 0.957530995828938
ExAC_synZ : -0.708161440410997
ExAC_misZ : 0.717502943461744
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 85437
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_033114
Tx_version : 4
Tx_start : 42312085
Tx_end : 42326094
Exon_count : 8
Overlapped_tx_length : 14009
Overlapped_CDS_length : 654
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42312085
Intersect_end : 42326094
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDX55Gene_name : DDX55;
LOEUF_bin : 4
GnomAD_pLI : 2.1088e-08
ExAC_pLI : 6.0082e-06
HI : .
TS : .
DDD_HI_percent : 44.62
ACMG : .
ExAC_cnvZ : 0.340939321847014
ExAC_delZ : -0.0708911242156945
ExAC_dupZ : 0.500166540666285
ExAC_synZ : 0.969930553370998
ExAC_misZ : 0.143826262231845
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57696
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_017019710
Tx_version : 2
Tx_start : 123602098
Tx_end : 123620581
Exon_count : 14
Overlapped_tx_length : 18483
Overlapped_CDS_length : 1857
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123602098
Intersect_end : 123620581
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
VSIG10Gene_name : VSIG10;
LOEUF_bin : 4
GnomAD_pLI : 3.4841e-06
ExAC_pLI : 5.5475e-07
HI : .
TS : .
DDD_HI_percent : 72.52
ACMG : .
ExAC_cnvZ : -0.595293488123118
ExAC_delZ : -0.563641730617074
ExAC_dupZ : -0.585155906508779
ExAC_synZ : -0.0953227727231076
ExAC_misZ : 0.299314658623957
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54621
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_019086
Tx_version : 6
Tx_start : 118063592
Tx_end : 118104011
Exon_count : 9
Overlapped_tx_length : 40419
Overlapped_CDS_length : 1623
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118063592
Intersect_end : 118104011
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SYT10Gene_name : SYT10;
LOEUF_bin : 4
GnomAD_pLI : 6.2437e-05
ExAC_pLI : 1.2325e-01
HI : .
TS : .
DDD_HI_percent : 61.15
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.22635894910544
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.09242622494928
ExAC_misZ : -0.104423353508644
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 341359
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : 5'UTR-3'UTR
Tx : NM_198992
Tx_version : 4
Tx_start : 33374237
Tx_end : 33439819
Exon_count : 7
Overlapped_tx_length : 65582
Overlapped_CDS_length : 1572
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 33374237
Intersect_end : 33439819
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
esv2761043B_loss_source : esv2761043
B_loss_coord : 12:33141565-34701563
B_loss_AFmax : 0.0400
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM19Gene_name : TMEM19;
LOEUF_bin : 4
GnomAD_pLI : 5.2014e-03
ExAC_pLI : 1.3807e-03
HI : .
TS : .
DDD_HI_percent : 44.97
ACMG : .
ExAC_cnvZ : 0.952866267550727
ExAC_delZ : 0.606299819718425
ExAC_dupZ : 0.907205501745359
ExAC_synZ : -0.142982714019832
ExAC_misZ : -0.5930552925537
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55266
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_018279
Tx_version : 4
Tx_start : 71686081
Tx_end : 71705047
Exon_count : 6
Overlapped_tx_length : 18966
Overlapped_CDS_length : 1011
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71686081
Intersect_end : 71705047
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CDK2AP1Gene_name : CDK2AP1;
LOEUF_bin : 4
GnomAD_pLI : 4.4839e-01
ExAC_pLI : 7.4236e-01
HI : .
TS : .
DDD_HI_percent : 40.73
ACMG : .
ExAC_cnvZ : 0.282444782708882
ExAC_delZ : 1.29773460843339
ExAC_dupZ : -0.22987954671288
ExAC_synZ : 1.09592129179511
ExAC_misZ : 1.86826608175126
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8099
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_004642
Tx_version : 4
Tx_start : 123260975
Tx_end : 123271856
Exon_count : 4
Overlapped_tx_length : 10881
Overlapped_CDS_length : 348
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123260975
Intersect_end : 123271856
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRRC10Gene_name : LRRC10;
LOEUF_bin : 4
GnomAD_pLI : 4.3469e-01
ExAC_pLI : 9.1918e-03
HI : .
TS : .
DDD_HI_percent : 47.25
ACMG : .
ExAC_cnvZ : 0.0925032477153793
ExAC_delZ : 0.00756576559832823
ExAC_dupZ : 0.0147293717976368
ExAC_synZ : -0.728830588246187
ExAC_misZ : 0.177866648506802
GenCC_disease : dilated cardiomyopathy
GenCC_moi : AR
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 376132
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_201550
Tx_version : 4
Tx_start : 69608563
Tx_end : 69610907
Exon_count : 1
Overlapped_tx_length : 2344
Overlapped_CDS_length : 834
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69608563
Intersect_end : 69610907
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BRI3BPGene_name : BRI3BP;
LOEUF_bin : 5
GnomAD_pLI : 6.4384e-02
ExAC_pLI : 1.2513e-01
HI : .
TS : .
DDD_HI_percent : 66.05
ACMG : .
ExAC_cnvZ : 0.766127499250527
ExAC_delZ : 0.452723166854394
ExAC_dupZ : 0.838928827418661
ExAC_synZ : 0.824549203499912
ExAC_misZ : 2.2811869829596
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140707
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_080626
Tx_version : 6
Tx_start : 124993644
Tx_end : 125031231
Exon_count : 3
Overlapped_tx_length : 37587
Overlapped_CDS_length : 756
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124993644
Intersect_end : 125031231
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ARL6IP4Gene_name : ARL6IP4;
LOEUF_bin : 5
GnomAD_pLI : 9.0784e-04
ExAC_pLI : 1.1234e-02
HI : .
TS : .
DDD_HI_percent : 56.14
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.263087848341006
ExAC_misZ : -0.785321215747339
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51329
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001400282
Tx_version : 1
Tx_start : 122980232
Tx_end : 122982909
Exon_count : 6
Overlapped_tx_length : 2677
Overlapped_CDS_length : 714
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122980232
Intersect_end : 122982909
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FICDGene_name : FICD;
LOEUF_bin : 5
GnomAD_pLI : 1.0193e-02
ExAC_pLI : 6.3858e-03
HI : .
TS : .
DDD_HI_percent : 62.6
ACMG : .
ExAC_cnvZ : 0.528166708740673
ExAC_delZ : 0.0699316520459918
ExAC_dupZ : 0.502712507738323
ExAC_synZ : 0.188988756004612
ExAC_misZ : 0.608988591699241
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11153
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_007076
Tx_version : 3
Tx_start : 108515276
Tx_end : 108521210
Exon_count : 3
Overlapped_tx_length : 5934
Overlapped_CDS_length : 1377
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108515276
Intersect_end : 108521210
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC60Gene_name : CCDC60;
LOEUF_bin : 5
GnomAD_pLI : 7.7084e-10
ExAC_pLI : 8.6207e-06
HI : .
TS : .
DDD_HI_percent : 84.82
ACMG : .
ExAC_cnvZ : 0.268566254201624
ExAC_delZ : 1.2751319633123
ExAC_dupZ : -0.257808980948121
ExAC_synZ : 1.6839714223429
ExAC_misZ : -1.26226464387304
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160777
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : NM_178499
Tx_version : 5
Tx_start : 119334728
Tx_end : 119541040
Exon_count : 14
Overlapped_tx_length : 206312
Overlapped_CDS_length : 1653
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119334728
Intersect_end : 119541040
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IGFBP6Gene_name : IGFBP6;
LOEUF_bin : 5
GnomAD_pLI : 2.9150e-02
ExAC_pLI : 9.2331e-02
HI : .
TS : .
DDD_HI_percent : 58.4
ACMG : .
ExAC_cnvZ : -0.053314543772366
ExAC_delZ : -0.461937712161224
ExAC_dupZ : 0.177523604263109
ExAC_synZ : -0.274019347520509
ExAC_misZ : 0.768860241856451
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3489
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_002178
Tx_version : 3
Tx_start : 53097666
Tx_end : 53102340
Exon_count : 4
Overlapped_tx_length : 4674
Overlapped_CDS_length : 723
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53097666
Intersect_end : 53102340
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LLPHGene_name : LLPH;
LOEUF_bin : 5
GnomAD_pLI : 3.4929e-01
ExAC_pLI : 3.4145e-01
HI : .
TS : .
DDD_HI_percent : 62.63
ACMG : .
ExAC_cnvZ : -1.08650483074721
ExAC_delZ : -1.52843173661213
ExAC_dupZ : -0.821272650537683
ExAC_synZ : 0.379579179450534
ExAC_misZ : 0.370426739954768
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84298
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_032338
Tx_version : 4
Tx_start : 66116554
Tx_end : 66130750
Exon_count : 3
Overlapped_tx_length : 14196
Overlapped_CDS_length : 390
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66116554
Intersect_end : 66130750
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RASAL1Gene_name : RASAL1;
LOEUF_bin : 5
GnomAD_pLI : 1.2135e-14
ExAC_pLI : 4.8598e-08
HI : .
TS : .
DDD_HI_percent : 57.99
ACMG : .
ExAC_cnvZ : -0.110659373303076
ExAC_delZ : 0.178297685144299
ExAC_dupZ : -0.274371777821267
ExAC_synZ : 1.2357048570787
ExAC_misZ : 1.32236641608685
GenCC_disease : breast cancer
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 8437
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : XM_047429676
Tx_version : 1
Tx_start : 113099277
Tx_end : 113136756
Exon_count : 22
Overlapped_tx_length : 37479
Overlapped_CDS_length : 2421
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113099277
Intersect_end : 113136756
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRRIQ1Gene_name : LRRIQ1;
LOEUF_bin : 5
GnomAD_pLI : 5.5161e-37
ExAC_pLI : 6.8499e-19
HI : .
TS : .
DDD_HI_percent : 62.61
ACMG : .
ExAC_cnvZ : -0.136415799795902
ExAC_delZ : -0.767302322896016
ExAC_dupZ : 0.211770139609215
ExAC_synZ : -0.626340189819707
ExAC_misZ : -3.96326659179353
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84125
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : XM_011538817
Tx_version : 3
Tx_start : 85036350
Tx_end : 85264457
Exon_count : 28
Overlapped_tx_length : 228107
Overlapped_CDS_length : 5283
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85036350
Intersect_end : 85264457
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PWP1Gene_name : PWP1;
LOEUF_bin : 5
GnomAD_pLI : 1.9862e-12
ExAC_pLI : 1.8550e-05
HI : .
TS : .
DDD_HI_percent : 49.07
ACMG : .
ExAC_cnvZ : 0.663894385459953
ExAC_delZ : 0.0564058221744736
ExAC_dupZ : 0.89072732053643
ExAC_synZ : -0.436792635969668
ExAC_misZ : 1.28465833632211
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11137
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_007062
Tx_version : 3
Tx_start : 107685798
Tx_end : 107713162
Exon_count : 15
Overlapped_tx_length : 27364
Overlapped_CDS_length : 1506
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107685798
Intersect_end : 107713162
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AGAP2-AS1Gene_name : AGAP2-AS1;
LOEUF_bin : 5
GnomAD_pLI : 2.7534e-02
ExAC_pLI : 4.2345e-02
HI : .
TS : .
DDD_HI_percent : 64.39
ACMG : .
ExAC_cnvZ : -0.520886843393399
ExAC_delZ : 0.272466660930063
ExAC_dupZ : -0.828861368919104
ExAC_synZ : 2.24075681053474
ExAC_misZ : 2.75312179406397
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100130776
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_027032
Tx_version : 1
Tx_start : 57726239
Tx_end : 57728356
Exon_count : 2
Overlapped_tx_length : 2117
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57726239
Intersect_end : 57728356
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC38Gene_name : CCDC38;
LOEUF_bin : 5
GnomAD_pLI : 1.8346e-13
ExAC_pLI : 1.5668e-08
HI : .
TS : .
DDD_HI_percent : 84.96
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -1.18195040603951
ExAC_misZ : -1.05897634634952
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120935
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : XM_011537883
Tx_version : 3
Tx_start : 95867047
Tx_end : 95943233
Exon_count : 16
Overlapped_tx_length : 76186
Overlapped_CDS_length : 1692
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95867047
Intersect_end : 95943233
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACSS3Gene_name : ACSS3;
LOEUF_bin : 5
GnomAD_pLI : 5.0483e-13
ExAC_pLI : 2.9994e-11
HI : .
TS : .
DDD_HI_percent : 28.03
ACMG : .
ExAC_cnvZ : 0.585506740832975
ExAC_delZ : -0.0030279362550686
ExAC_dupZ : 0.822164797091621
ExAC_synZ : 0.531674586004126
ExAC_misZ : 0.544144549939713
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79611
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_024560
Tx_version : 4
Tx_start : 81078078
Tx_end : 81261210
Exon_count : 16
Overlapped_tx_length : 183132
Overlapped_CDS_length : 2061
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81078078
Intersect_end : 81261210
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CELA1Gene_name : CELA1;
LOEUF_bin : 5
GnomAD_pLI : 2.3937e-04
ExAC_pLI : 1.2995e-01
HI : .
TS : .
DDD_HI_percent : 59.6
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.712613696190336
ExAC_misZ : -0.355795795876138
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1990
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001971
Tx_version : 6
Tx_start : 51328441
Tx_end : 51346679
Exon_count : 8
Overlapped_tx_length : 18238
Overlapped_CDS_length : 777
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51328441
Intersect_end : 51346679
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPP1R1AGene_name : PPP1R1A;
LOEUF_bin : 5
GnomAD_pLI : 2.1894e-02
ExAC_pLI : 8.5761e-03
HI : .
TS : .
DDD_HI_percent : 52.28
ACMG : .
ExAC_cnvZ : -0.164160127291463
ExAC_delZ : -0.438588274273136
ExAC_dupZ : -0.0172269000810964
ExAC_synZ : -1.21642581405182
ExAC_misZ : 0.709680905106817
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5502
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_006741
Tx_version : 4
Tx_start : 54579245
Tx_end : 54588659
Exon_count : 7
Overlapped_tx_length : 9414
Overlapped_CDS_length : 516
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54579245
Intersect_end : 54588659
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GTF2H3Gene_name : GTF2H3;
LOEUF_bin : 5
GnomAD_pLI : 3.0414e-08
ExAC_pLI : 1.5917e-05
HI : .
TS : .
DDD_HI_percent : 51
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.29707137969674
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.146914679068178
ExAC_misZ : -0.109498479796001
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 2967
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001516
Tx_version : 5
Tx_start : 123633828
Tx_end : 123662604
Exon_count : 13
Overlapped_tx_length : 28776
Overlapped_CDS_length : 927
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123633828
Intersect_end : 123662604
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAPGEF3Gene_name : RAPGEF3;
LOEUF_bin : 5
GnomAD_pLI : 7.0737e-23
ExAC_pLI : 2.0974e-15
HI : .
TS : .
DDD_HI_percent : 42.68
ACMG : .
ExAC_cnvZ : 0.778577474241901
ExAC_delZ : 0.141478820773136
ExAC_dupZ : 1.04496464973662
ExAC_synZ : -0.445537533701592
ExAC_misZ : 0.420784205127508
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10411
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_011537752
Tx_version : 3
Tx_start : 47734362
Tx_end : 47758880
Exon_count : 28
Overlapped_tx_length : 24518
Overlapped_CDS_length : 2817
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47734362
Intersect_end : 47758880
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BIN2Gene_name : BIN2;
LOEUF_bin : 5
GnomAD_pLI : 4.5252e-11
ExAC_pLI : 2.0994e-04
HI : .
TS : .
DDD_HI_percent : 72.5
ACMG : .
ExAC_cnvZ : 0.769766029860177
ExAC_delZ : -0.169999482529037
ExAC_dupZ : 1.3491424055783
ExAC_synZ : 0.556365377509539
ExAC_misZ : 0.581419404960526
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51411
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_016293
Tx_version : 4
Tx_start : 51281037
Tx_end : 51324174
Exon_count : 13
Overlapped_tx_length : 43137
Overlapped_CDS_length : 1698
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51281037
Intersect_end : 51324174
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
USP44Gene_name : USP44;
LOEUF_bin : 5
GnomAD_pLI : 9.8051e-15
ExAC_pLI : 1.4612e-09
HI : .
TS : .
DDD_HI_percent : 37.97
ACMG : .
ExAC_cnvZ : 1.0289823031015
ExAC_delZ : 0.944882796623116
ExAC_dupZ : 0.776000966791375
ExAC_synZ : 0.764983869617868
ExAC_misZ : 0.245592803010398
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84101
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : XM_011538803
Tx_version : 1
Tx_start : 95516559
Tx_end : 95551529
Exon_count : 7
Overlapped_tx_length : 34970
Overlapped_CDS_length : 2232
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95516559
Intersect_end : 95551529
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LMBR1LGene_name : LMBR1L;
LOEUF_bin : 5
GnomAD_pLI : 6.6140e-13
ExAC_pLI : 2.1832e-06
HI : .
TS : .
DDD_HI_percent : 15.04
ACMG : .
ExAC_cnvZ : 0.294243884257305
ExAC_delZ : 0.0282204498865386
ExAC_dupZ : 0.399052617291479
ExAC_synZ : -0.268008362851956
ExAC_misZ : 0.983897218575922
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55716
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001352161
Tx_version : 2
Tx_start : 49097138
Tx_end : 49110847
Exon_count : 17
Overlapped_tx_length : 13709
Overlapped_CDS_length : 1491
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49097138
Intersect_end : 49110847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
METTL1Gene_name : METTL1;
LOEUF_bin : 5
GnomAD_pLI : 1.9620e-03
ExAC_pLI : 5.9156e-03
HI : .
TS : .
DDD_HI_percent : 15.23
ACMG : .
ExAC_cnvZ : -0.783299864540504
ExAC_delZ : -1.2942422909387
ExAC_dupZ : -0.388984284367486
ExAC_synZ : 0.397498226106554
ExAC_misZ : 0.513950411789968
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4234
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_005371
Tx_version : 6
Tx_start : 57768470
Tx_end : 57772105
Exon_count : 6
Overlapped_tx_length : 3635
Overlapped_CDS_length : 831
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57768470
Intersect_end : 57772105
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ALDH1L2Gene_name : ALDH1L2;
LOEUF_bin : 5
GnomAD_pLI : 1.7337e-17
ExAC_pLI : 3.5001e-11
HI : .
TS : .
DDD_HI_percent : 42.19
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.41451683695592
ExAC_synZ : -0.513952760693077
ExAC_misZ : 0.185983372711735
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160428
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001034173
Tx_version : 4
Tx_start : 105019789
Tx_end : 105084458
Exon_count : 23
Overlapped_tx_length : 64669
Overlapped_CDS_length : 2772
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105019789
Intersect_end : 105084458
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ORMDL2Gene_name : ORMDL2;
LOEUF_bin : 5
GnomAD_pLI : 1.9417e-01
ExAC_pLI : 1.5087e-01
HI : .
TS : .
DDD_HI_percent : 20.35
ACMG : .
ExAC_cnvZ : 0.670595662106331
ExAC_delZ : 0.78983808547815
ExAC_dupZ : 0.467447400422107
ExAC_synZ : -0.442941616765871
ExAC_misZ : 0.42474506222596
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29095
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_014182
Tx_version : 5
Tx_start : 55818040
Tx_end : 55821879
Exon_count : 4
Overlapped_tx_length : 3839
Overlapped_CDS_length : 462
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55818040
Intersect_end : 55821879
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCER1Gene_name : CCER1;
LOEUF_bin : 5
GnomAD_pLI : 4.1961e-05
ExAC_pLI : 4.8473e-07
HI : .
TS : .
DDD_HI_percent : 84.57
ACMG : .
ExAC_cnvZ : 0.250807876114444
ExAC_delZ : 0.527749090696893
ExAC_dupZ : 0.00934045229469327
ExAC_synZ : 2.32867950187269
ExAC_misZ : 0.617720213303356
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196477
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : 5'UTR-3'UTR
Tx : NM_152638
Tx_version : 4
Tx_start : 90952214
Tx_end : 90955176
Exon_count : 1
Overlapped_tx_length : 2962
Overlapped_CDS_length : 1221
Overlapped_CDS_percent : 73
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90952214
Intersect_end : 90955176
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC15A4Gene_name : SLC15A4;
LOEUF_bin : 5
GnomAD_pLI : 1.9296e-06
ExAC_pLI : 2.9944e-09
HI : .
TS : .
DDD_HI_percent : 75.21
ACMG : .
ExAC_cnvZ : -0.332233871236011
ExAC_delZ : 0.275510969251864
ExAC_dupZ : -0.617783714921849
ExAC_synZ : 1.36655103944573
ExAC_misZ : 2.28366756729752
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121260
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : XM_011537895
Tx_version : 2
Tx_start : 128793193
Tx_end : 128823958
Exon_count : 8
Overlapped_tx_length : 30765
Overlapped_CDS_length : 1884
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128793193
Intersect_end : 128823958
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GPN3Gene_name : GPN3;
LOEUF_bin : 5
GnomAD_pLI : 2.9029e-07
ExAC_pLI : 1.0047e-04
HI : .
TS : .
DDD_HI_percent : 10.15
ACMG : .
ExAC_cnvZ : -0.297301252101318
ExAC_delZ : -0.332811881135887
ExAC_dupZ : -0.274628410728901
ExAC_synZ : 0.247738062563009
ExAC_misZ : 0.411407060657385
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51184
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_047428933
Tx_version : 1
Tx_start : 110452485
Tx_end : 110468721
Exon_count : 9
Overlapped_tx_length : 16236
Overlapped_CDS_length : 1092
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110452485
Intersect_end : 110468721
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT8Gene_name : KRT8;
LOEUF_bin : 5
GnomAD_pLI : 2.3600e-08
ExAC_pLI : 5.6144e-06
HI : .
TS : .
DDD_HI_percent : 13.83
ACMG : .
ExAC_cnvZ : 0.650380371170755
ExAC_delZ : 0.504618055807649
ExAC_dupZ : 0.480084184632922
ExAC_synZ : 0.473749301791349
ExAC_misZ : 2.15133530373941
GenCC_disease : cirrhosis, familial
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 11372009; 22419260; 30134826
NCBI_gene_ID : 3856
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001256282
Tx_version : 2
Tx_start : 52897190
Tx_end : 52926469
Exon_count : 9
Overlapped_tx_length : 29279
Overlapped_CDS_length : 1536
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52897190
Intersect_end : 52926469
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMCC3Gene_name : TMCC3;
LOEUF_bin : 5
GnomAD_pLI : 2.7391e-05
ExAC_pLI : 3.9218e-04
HI : .
TS : .
DDD_HI_percent : 45.07
ACMG : .
ExAC_cnvZ : 1.20592112758663
ExAC_delZ : 0.796172285565956
ExAC_dupZ : 1.05657746627198
ExAC_synZ : 0.129279207955062
ExAC_misZ : 0.852445951544226
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57458
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_020698
Tx_version : 4
Tx_start : 94567121
Tx_end : 94650557
Exon_count : 4
Overlapped_tx_length : 83436
Overlapped_CDS_length : 1434
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94567121
Intersect_end : 94650557
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PLBD2Gene_name : PLBD2;
LOEUF_bin : 5
GnomAD_pLI : 1.7226e-11
ExAC_pLI : 7.1847e-08
HI : .
TS : .
DDD_HI_percent : 65.34
ACMG : .
ExAC_cnvZ : -0.0116916994014417
ExAC_delZ : -0.634898151971267
ExAC_dupZ : 0.378675123353438
ExAC_synZ : 0.916842894355966
ExAC_misZ : 1.350046247972
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196463
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_173542
Tx_version : 4
Tx_start : 113358586
Tx_end : 113391629
Exon_count : 12
Overlapped_tx_length : 33043
Overlapped_CDS_length : 1770
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113358586
Intersect_end : 113391629
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CSADGene_name : CSAD;
LOEUF_bin : 5
GnomAD_pLI : 6.0781e-12
ExAC_pLI : 2.4797e-06
HI : .
TS : .
DDD_HI_percent : 53.63
ACMG : .
ExAC_cnvZ : -0.206883861246839
ExAC_delZ : -0.670456886253683
ExAC_dupZ : 0.0953445479289426
ExAC_synZ : -0.22581811148098
ExAC_misZ : -0.204889933744361
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51380
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_047428958
Tx_version : 1
Tx_start : 53157662
Tx_end : 53180646
Exon_count : 18
Overlapped_tx_length : 22984
Overlapped_CDS_length : 1752
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53157662
Intersect_end : 53180646
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MUC19Gene_name : MUC19;
LOEUF_bin : 5
GnomAD_pLI : 6.2216e-32
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 92.49
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283463
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_173600
Tx_version : 2
Tx_start : 40393393
Tx_end : 40570757
Exon_count : 172
Overlapped_tx_length : 177364
Overlapped_CDS_length : 24561
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40393393
Intersect_end : 40570757
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAM186BGene_name : FAM186B;
LOEUF_bin : 6
GnomAD_pLI : 5.5062e-24
ExAC_pLI : 2.4002e-12
HI : .
TS : .
DDD_HI_percent : 81.93
ACMG : .
ExAC_cnvZ : 0.868913464054097
ExAC_delZ : 0.741016481988203
ExAC_dupZ : 0.682096031737605
ExAC_synZ : 1.20477515742505
ExAC_misZ : -0.385097761690444
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84070
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_006719625
Tx_version : 3
Tx_start : 49582872
Tx_end : 49605639
Exon_count : 8
Overlapped_tx_length : 22767
Overlapped_CDS_length : 2682
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49582872
Intersect_end : 49605639
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACTR6Gene_name : ACTR6;
LOEUF_bin : 6
GnomAD_pLI : 5.4629e-09
ExAC_pLI : 4.6859e-03
HI : .
TS : .
DDD_HI_percent : 7.31
ACMG : .
ExAC_cnvZ : -1.29851555326908
ExAC_delZ : -1.05674463217105
ExAC_dupZ : -1.46325235451934
ExAC_synZ : 0.871746671883234
ExAC_misZ : 1.68088713381223
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64431
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_022496
Tx_version : 5
Tx_start : 100200814
Tx_end : 100224424
Exon_count : 11
Overlapped_tx_length : 23610
Overlapped_CDS_length : 1191
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100200814
Intersect_end : 100224424
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HELBGene_name : HELB;
LOEUF_bin : 6
GnomAD_pLI : 9.5899e-26
ExAC_pLI : 2.0169e-13
HI : .
TS : .
DDD_HI_percent : 83.4
ACMG : .
ExAC_cnvZ : 0.536892225913615
ExAC_delZ : 0.940575932524884
ExAC_dupZ : 0.157889575226419
ExAC_synZ : 0.584073935979693
ExAC_misZ : 0.119988338978436
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 92797
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_033647
Tx_version : 5
Tx_start : 66302492
Tx_end : 66343643
Exon_count : 14
Overlapped_tx_length : 41151
Overlapped_CDS_length : 3264
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66302492
Intersect_end : 66343643
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT84Gene_name : KRT84;
LOEUF_bin : 6
GnomAD_pLI : 6.5597e-10
ExAC_pLI : 9.4328e-07
HI : .
TS : .
DDD_HI_percent : 67.7
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.885138756335552
ExAC_misZ : -1.91125564350318
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3890
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_011538335
Tx_version : 3
Tx_start : 52377811
Tx_end : 52386977
Exon_count : 10
Overlapped_tx_length : 9166
Overlapped_CDS_length : 1803
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52377811
Intersect_end : 52386977
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AMDHD1Gene_name : AMDHD1;
LOEUF_bin : 6
GnomAD_pLI : 3.1269e-08
ExAC_pLI : 2.4695e-06
HI : .
TS : .
DDD_HI_percent : 18.57
ACMG : .
ExAC_cnvZ : 1.15323729992935
ExAC_delZ : 0.700281815353159
ExAC_dupZ : 0.983337532797361
ExAC_synZ : 0.315123756300984
ExAC_misZ : -0.299449303531625
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144193
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_152435
Tx_version : 3
Tx_start : 95943330
Tx_end : 95968720
Exon_count : 9
Overlapped_tx_length : 25390
Overlapped_CDS_length : 1281
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95943330
Intersect_end : 95968720
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RASSF9Gene_name : RASSF9;
LOEUF_bin : 6
GnomAD_pLI : 1.4029e-08
ExAC_pLI : 7.7040e-05
HI : .
TS : .
DDD_HI_percent : 57.77
ACMG : .
ExAC_cnvZ : -0.498301084944678
ExAC_delZ : 0.360628067117396
ExAC_dupZ : -0.849828466671766
ExAC_synZ : -0.048224836495304
ExAC_misZ : -1.01596121760729
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9182
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_005447
Tx_version : 4
Tx_start : 85800702
Tx_end : 85836409
Exon_count : 2
Overlapped_tx_length : 35707
Overlapped_CDS_length : 1308
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85800702
Intersect_end : 85836409
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC8B1Gene_name : SLC8B1;
LOEUF_bin : 6
GnomAD_pLI : 2.0302e-16
ExAC_pLI : 5.4760e-10
HI : .
TS : .
DDD_HI_percent : 72.39
ACMG : .
ExAC_cnvZ : 0.312245242714734
ExAC_delZ : -0.505769524029782
ExAC_dupZ : 0.809495477142874
ExAC_synZ : -0.610277262583013
ExAC_misZ : -0.0181621053085049
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80024
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001358345
Tx_version : 2
Tx_start : 113298770
Tx_end : 113335109
Exon_count : 16
Overlapped_tx_length : 36339
Overlapped_CDS_length : 1755
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113298770
Intersect_end : 113335109
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRRC43Gene_name : LRRC43;
LOEUF_bin : 6
GnomAD_pLI : 4.7157e-15
ExAC_pLI : 6.7034e-14
HI : .
TS : .
DDD_HI_percent : 87.66
ACMG : .
ExAC_cnvZ : -1.15450910662672
ExAC_delZ : -2.5408529589222
ExAC_dupZ : -0.0180440021362282
ExAC_synZ : 0.23149240386636
ExAC_misZ : 0.69903024047017
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 254050
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_047428658
Tx_version : 1
Tx_start : 122183122
Tx_end : 122201930
Exon_count : 12
Overlapped_tx_length : 18808
Overlapped_CDS_length : 2067
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122183122
Intersect_end : 122201930
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR10P1Gene_name : OR10P1;
LOEUF_bin : 6
GnomAD_pLI : 1.1405e-01
ExAC_pLI : 1.9235e-02
HI : .
TS : .
DDD_HI_percent : 83.63
ACMG : .
ExAC_cnvZ : 0.809122266330953
ExAC_delZ : 0.451718854410392
ExAC_dupZ : 0.691040034850717
ExAC_synZ : -1.62288344206878
ExAC_misZ : -0.343526790980193
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121130
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_206899
Tx_version : 1
Tx_start : 55636891
Tx_end : 55637833
Exon_count : 1
Overlapped_tx_length : 942
Overlapped_CDS_length : 942
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55636891
Intersect_end : 55637833
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RILPL2Gene_name : RILPL2;
LOEUF_bin : 6
GnomAD_pLI : 3.8900e-03
ExAC_pLI : 6.0872e-02
HI : .
TS : .
DDD_HI_percent : 63.26
ACMG : .
ExAC_cnvZ : 0.0692822068643141
ExAC_delZ : 0.252529493897803
ExAC_dupZ : -0.0677363492984337
ExAC_synZ : -0.690290072997428
ExAC_misZ : 1.15755710708496
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196383
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_047428476
Tx_version : 1
Tx_start : 123410678
Tx_end : 123436684
Exon_count : 4
Overlapped_tx_length : 26006
Overlapped_CDS_length : 684
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123410678
Intersect_end : 123436684
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MRPL42Gene_name : MRPL42;
LOEUF_bin : 6
GnomAD_pLI : 3.9597e-02
ExAC_pLI : 2.7882e-02
HI : .
TS : .
DDD_HI_percent : 36.74
ACMG : .
ExAC_cnvZ : 1.41854434711091
ExAC_delZ : 0.993345016246907
ExAC_dupZ : 1.21316360484147
ExAC_synZ : -0.568423582088697
ExAC_misZ : -0.203592200373667
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 28977
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : NM_014050
Tx_version : 4
Tx_start : 93467513
Tx_end : 93516214
Exon_count : 6
Overlapped_tx_length : 48701
Overlapped_CDS_length : 429
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93467513
Intersect_end : 93516214
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OAS2Gene_name : OAS2;
LOEUF_bin : 6
GnomAD_pLI : 2.6050e-21
ExAC_pLI : 1.8909e-14
HI : .
TS : .
DDD_HI_percent : 93.17
ACMG : .
ExAC_cnvZ : -1.78970011140236
ExAC_delZ : -0.238542906322352
ExAC_dupZ : -2.49748166887591
ExAC_synZ : -0.582818232842479
ExAC_misZ : 0.142466255657443
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4939
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_016817
Tx_version : 3
Tx_start : 112978518
Tx_end : 113011723
Exon_count : 11
Overlapped_tx_length : 33205
Overlapped_CDS_length : 2160
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112978518
Intersect_end : 113011723
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC11Gene_name : HOXC11;
LOEUF_bin : 6
GnomAD_pLI : 4.0590e-03
ExAC_pLI : 7.8695e-02
HI : .
TS : .
DDD_HI_percent : 3.92
ACMG : .
ExAC_cnvZ : 0.685383570536741
ExAC_delZ : 0.263759631656146
ExAC_dupZ : 0.61171872710646
ExAC_synZ : 2.95316738396607
ExAC_misZ : 2.44388024764904
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3227
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_014212
Tx_version : 4
Tx_start : 53973125
Tx_end : 53977643
Exon_count : 2
Overlapped_tx_length : 4518
Overlapped_CDS_length : 915
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53973125
Intersect_end : 53977643
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SMUG1Gene_name : SMUG1;
LOEUF_bin : 6
GnomAD_pLI : 4.5154e-04
ExAC_pLI : 1.2301e-03
HI : .
TS : .
DDD_HI_percent : 28.72
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.603598845321318
ExAC_misZ : 0.520867475494186
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23583
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001243787
Tx_version : 2
Tx_start : 54180365
Tx_end : 54188985
Exon_count : 4
Overlapped_tx_length : 8620
Overlapped_CDS_length : 813
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54180365
Intersect_end : 54188985
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GAS2L3Gene_name : GAS2L3;
LOEUF_bin : 6
GnomAD_pLI : 2.1234e-13
ExAC_pLI : 2.5859e-04
HI : .
TS : .
DDD_HI_percent : 61.9
ACMG : .
ExAC_cnvZ : 0.5998078943951
ExAC_delZ : 0.772590006946802
ExAC_dupZ : 0.2895317102521
ExAC_synZ : -1.34124653889173
ExAC_misZ : -0.59852688904242
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283431
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001303130
Tx_version : 2
Tx_start : 100573683
Tx_end : 100628288
Exon_count : 9
Overlapped_tx_length : 54605
Overlapped_CDS_length : 2085
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100573683
Intersect_end : 100628288
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AACSGene_name : AACS;
LOEUF_bin : 6
GnomAD_pLI : 9.1275e-17
ExAC_pLI : 4.2457e-12
HI : .
TS : .
DDD_HI_percent : 60.03
ACMG : .
ExAC_cnvZ : 0.999713055858048
ExAC_delZ : 0.607059386287841
ExAC_dupZ : 0.990132030567623
ExAC_synZ : 0.678348484783048
ExAC_misZ : -0.492311064700297
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 65985
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_023928
Tx_version : 5
Tx_start : 125065434
Tx_end : 125143316
Exon_count : 18
Overlapped_tx_length : 77882
Overlapped_CDS_length : 2019
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125065434
Intersect_end : 125143316
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ACAD10Gene_name : ACAD10;
LOEUF_bin : 6
GnomAD_pLI : 1.0177e-30
ExAC_pLI : 4.0146e-20
HI : .
TS : .
DDD_HI_percent : 71.16
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.632669646442501
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.171699759630068
ExAC_misZ : -0.597711726249043
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80724
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : 5'UTR-3'UTR
Tx : NM_001136538
Tx_version : 2
Tx_start : 111686052
Tx_end : 111757099
Exon_count : 22
Overlapped_tx_length : 71047
Overlapped_CDS_length : 3273
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111686052
Intersect_end : 111757099
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
COQ10AGene_name : COQ10A;
LOEUF_bin : 6
GnomAD_pLI : 3.6102e-04
ExAC_pLI : 1.2110e-01
HI : .
TS : .
DDD_HI_percent : 40.77
ACMG : .
ExAC_cnvZ : 0.967298899706786
ExAC_delZ : 1.40265207034343
ExAC_dupZ : 0.531318502485351
ExAC_synZ : 0.544951800345074
ExAC_misZ : 0.613432877241757
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 93058
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_144576
Tx_version : 4
Tx_start : 56266941
Tx_end : 56270966
Exon_count : 5
Overlapped_tx_length : 4025
Overlapped_CDS_length : 744
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56266941
Intersect_end : 56270966
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CMKLR1Gene_name : CMKLR1;
LOEUF_bin : 6
GnomAD_pLI : 1.0767e-02
ExAC_pLI : 6.8527e-02
HI : .
TS : .
DDD_HI_percent : 54.57
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.0873902752193764
ExAC_misZ : 0.0406615040098577
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1240
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001142343
Tx_version : 2
Tx_start : 108288045
Tx_end : 108339311
Exon_count : 4
Overlapped_tx_length : 51266
Overlapped_CDS_length : 1122
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108288045
Intersect_end : 108339311
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:108265781-108362157
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
INHBCGene_name : INHBC;
LOEUF_bin : 6
GnomAD_pLI : 5.6341e-05
ExAC_pLI : 8.3686e-02
HI : .
TS : .
DDD_HI_percent : 65.42
ACMG : .
ExAC_cnvZ : 0.477758454685936
ExAC_delZ : -0.158202466913973
ExAC_dupZ : 0.695408418464717
ExAC_synZ : -0.22271666893096
ExAC_misZ : 0.0737153835644515
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3626
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_005538
Tx_version : 4
Tx_start : 57434783
Tx_end : 57452062
Exon_count : 2
Overlapped_tx_length : 17279
Overlapped_CDS_length : 1059
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57434783
Intersect_end : 57452062
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC5A8Gene_name : SLC5A8;
LOEUF_bin : 6
GnomAD_pLI : 4.9955e-16
ExAC_pLI : 2.8581e-11
HI : .
TS : .
DDD_HI_percent : 32.5
ACMG : .
ExAC_cnvZ : -0.849897626611122
ExAC_delZ : -2.43747444568679
ExAC_dupZ : 0.491180211311578
ExAC_synZ : -1.69928736675108
ExAC_misZ : -0.27327872500598
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160728
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1-q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_145913
Tx_version : 5
Tx_start : 101155492
Tx_end : 101210238
Exon_count : 15
Overlapped_tx_length : 54746
Overlapped_CDS_length : 1833
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101155492
Intersect_end : 101210238
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
YEATS4Gene_name : YEATS4;
LOEUF_bin : 6
GnomAD_pLI : 7.4640e-05
ExAC_pLI : 9.8739e-02
HI : .
TS : .
DDD_HI_percent : 4.27
ACMG : .
ExAC_cnvZ : 0.321907704289139
ExAC_delZ : 0.191976526421195
ExAC_dupZ : 0.262144975485777
ExAC_synZ : -0.754207960656107
ExAC_misZ : 2.69176461316102
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8089
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_006530
Tx_version : 4
Tx_start : 69359742
Tx_end : 69390870
Exon_count : 7
Overlapped_tx_length : 31128
Overlapped_CDS_length : 684
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69359742
Intersect_end : 69390870
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
APOFGene_name : APOF;
LOEUF_bin : 6
GnomAD_pLI : 1.0295e-02
ExAC_pLI : 1.9338e-02
HI : .
TS : .
DDD_HI_percent : 75.04
ACMG : .
ExAC_cnvZ : -0.0543006404808892
ExAC_delZ : 0.0955780835934576
ExAC_dupZ : -0.206779204936972
ExAC_synZ : -0.680605876716565
ExAC_misZ : -0.304553986162247
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 319
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001638
Tx_version : 4
Tx_start : 56360567
Tx_end : 56362857
Exon_count : 2
Overlapped_tx_length : 2290
Overlapped_CDS_length : 981
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56360567
Intersect_end : 56362857
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ALKBH2Gene_name : ALKBH2;
LOEUF_bin : 6
GnomAD_pLI : 3.2745e-03
ExAC_pLI : 8.1669e-04
HI : .
TS : .
DDD_HI_percent : 83.44
ACMG : .
ExAC_cnvZ : 0.748621262364211
ExAC_delZ : 0.924914471011594
ExAC_dupZ : 0.441400271069579
ExAC_synZ : 0.471398529206899
ExAC_misZ : -0.248009164242296
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121642
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001001655
Tx_version : 3
Tx_start : 109088188
Tx_end : 109093472
Exon_count : 4
Overlapped_tx_length : 5284
Overlapped_CDS_length : 786
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109088188
Intersect_end : 109093472
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
STX2Gene_name : STX2;
LOEUF_bin : 6
GnomAD_pLI : 2.1087e-07
ExAC_pLI : 3.8652e-04
HI : .
TS : .
DDD_HI_percent : 62.97
ACMG : .
ExAC_cnvZ : -0.1297292605677
ExAC_delZ : -0.375476684531409
ExAC_dupZ : -0.0239632129619356
ExAC_synZ : 0.205581320231401
ExAC_misZ : 0.102182285945798
GenCC_disease : spermatogenic failure
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 2054
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : XM_047428491
Tx_version : 1
Tx_start : 130795994
Tx_end : 130834076
Exon_count : 10
Overlapped_tx_length : 38082
Overlapped_CDS_length : 963
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130795994
Intersect_end : 130834076
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
WIF1Gene_name : WIF1;
LOEUF_bin : 6
GnomAD_pLI : 1.3249e-09
ExAC_pLI : 2.4172e-05
HI : .
TS : .
DDD_HI_percent : 11.2
ACMG : .
ExAC_cnvZ : -0.0486889769224081
ExAC_delZ : 0.526615453200982
ExAC_dupZ : -0.361038571206073
ExAC_synZ : -0.00904663425770821
ExAC_misZ : 0.0402196854647888
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11197
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_007191
Tx_version : 5
Tx_start : 65050625
Tx_end : 65121305
Exon_count : 10
Overlapped_tx_length : 70680
Overlapped_CDS_length : 1140
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65050625
Intersect_end : 65121305
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
APPL2Gene_name : APPL2;
LOEUF_bin : 6
GnomAD_pLI : 1.1641e-18
ExAC_pLI : 3.5282e-09
HI : .
TS : .
DDD_HI_percent : 47.72
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.261543166985891
ExAC_misZ : -0.663682137901258
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 334
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001251904
Tx_version : 2
Tx_start : 105173299
Tx_end : 105236174
Exon_count : 21
Overlapped_tx_length : 62875
Overlapped_CDS_length : 2013
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105173299
Intersect_end : 105236174
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MORN3Gene_name : MORN3;
LOEUF_bin : 7
GnomAD_pLI : 1.5357e-07
ExAC_pLI : 1.8256e-06
HI : .
TS : .
DDD_HI_percent : 62.76
ACMG : .
ExAC_cnvZ : -0.361219146224265
ExAC_delZ : -0.127205018056166
ExAC_dupZ : -0.448948638475111
ExAC_synZ : 1.06936809567044
ExAC_misZ : 0.0919629627048049
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283385
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001363685
Tx_version : 2
Tx_start : 121648741
Tx_end : 121672644
Exon_count : 7
Overlapped_tx_length : 23903
Overlapped_CDS_length : 723
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121648741
Intersect_end : 121672644
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BEST3Gene_name : BEST3;
LOEUF_bin : 7
GnomAD_pLI : 2.0104e-19
ExAC_pLI : 3.6944e-17
HI : .
TS : .
DDD_HI_percent : 52.62
ACMG : .
ExAC_cnvZ : 0.435791898254403
ExAC_delZ : 0.0369854275818703
ExAC_dupZ : 0.508856456923238
ExAC_synZ : -0.352978843522128
ExAC_misZ : -0.80818252749174
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144453
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_032735
Tx_version : 3
Tx_start : 69653608
Tx_end : 69699303
Exon_count : 10
Overlapped_tx_length : 45695
Overlapped_CDS_length : 2007
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69653608
Intersect_end : 69699303
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAD9BGene_name : RAD9B;
LOEUF_bin : 7
GnomAD_pLI : 3.0239e-13
ExAC_pLI : 3.6270e-05
HI : .
TS : .
DDD_HI_percent : 64.22
ACMG : .
ExAC_cnvZ : 0.225469753118112
ExAC_delZ : 0.061238665054608
ExAC_dupZ : 0.222951831648996
ExAC_synZ : 0.459984310219734
ExAC_misZ : -1.2483948764821
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144715
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_152442
Tx_version : 4
Tx_start : 110502330
Tx_end : 110533556
Exon_count : 12
Overlapped_tx_length : 31226
Overlapped_CDS_length : 1290
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110502330
Intersect_end : 110533556
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT73Gene_name : KRT73;
LOEUF_bin : 7
GnomAD_pLI : 7.1972e-12
ExAC_pLI : 2.0082e-11
HI : .
TS : .
DDD_HI_percent : 55.34
ACMG : .
ExAC_cnvZ : -1.90659880074757
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.37547893642416
ExAC_synZ : -0.393094684269426
ExAC_misZ : -0.29250018181218
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 319101
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_047428761
Tx_version : 1
Tx_start : 52607569
Tx_end : 52630761
Exon_count : 11
Overlapped_tx_length : 23192
Overlapped_CDS_length : 1623
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52607569
Intersect_end : 52630761
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TCP11L2Gene_name : TCP11L2;
LOEUF_bin : 7
GnomAD_pLI : 1.4743e-12
ExAC_pLI : 7.4881e-07
HI : .
TS : .
DDD_HI_percent : 39.25
ACMG : .
ExAC_cnvZ : 1.17514094000187
ExAC_delZ : 0.732676617893207
ExAC_dupZ : 0.992983840496497
ExAC_synZ : 0.0653173494741538
ExAC_misZ : -1.04275025395351
GenCC_disease : schizophrenia
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : 24463507
NCBI_gene_ID : 255394
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428667
Tx_version : 1
Tx_start : 106297934
Tx_end : 106347003
Exon_count : 10
Overlapped_tx_length : 49069
Overlapped_CDS_length : 1560
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106297934
Intersect_end : 106347003
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLIPR1L2Gene_name : GLIPR1L2;
LOEUF_bin : 7
GnomAD_pLI : 2.2717e-07
ExAC_pLI : 3.1086e-03
HI : .
TS : .
DDD_HI_percent : 86.85
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.285851324281096
ExAC_misZ : -0.709769263969177
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144321
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : XM_047428338
Tx_version : 1
Tx_start : 75391088
Tx_end : 75413189
Exon_count : 3
Overlapped_tx_length : 22101
Overlapped_CDS_length : 1086
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75391088
Intersect_end : 75413189
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMPRSS12Gene_name : TMPRSS12;
LOEUF_bin : 7
GnomAD_pLI : 5.6068e-06
ExAC_pLI : 3.1163e-03
HI : .
TS : .
DDD_HI_percent : 85.73
ACMG : .
ExAC_cnvZ : -0.198182788076392
ExAC_delZ : -0.403243992153817
ExAC_dupZ : -0.0434946575857353
ExAC_synZ : 0.232719383558556
ExAC_misZ : -0.161218891760313
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283471
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_182559
Tx_version : 3
Tx_start : 50842925
Tx_end : 50887884
Exon_count : 5
Overlapped_tx_length : 44959
Overlapped_CDS_length : 1047
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50842925
Intersect_end : 50887884
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IL26Gene_name : IL26;
LOEUF_bin : 7
GnomAD_pLI : 5.3514e-04
ExAC_pLI : 5.2762e-02
HI : .
TS : .
DDD_HI_percent : 70.38
ACMG : .
ExAC_cnvZ : 0.312870894389909
ExAC_delZ : 0.191347959667933
ExAC_dupZ : 0.24632366919347
ExAC_synZ : -0.0193856647849805
ExAC_misZ : -0.453172304446933
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55801
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_018402
Tx_version : 2
Tx_start : 68201348
Tx_end : 68225810
Exon_count : 5
Overlapped_tx_length : 24462
Overlapped_CDS_length : 516
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68201348
Intersect_end : 68225810
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLT1D1Gene_name : GLT1D1;
LOEUF_bin : 7
GnomAD_pLI : 6.1378e-08
ExAC_pLI : 9.1508e-05
HI : .
TS : .
DDD_HI_percent : 84.78
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.277157692733434
ExAC_misZ : -0.0116483978296668
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144423
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : NM_001366889
Tx_version : 1
Tx_start : 128853477
Tx_end : 128984968
Exon_count : 13
Overlapped_tx_length : 131491
Overlapped_CDS_length : 1089
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128853477
Intersect_end : 128984968
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C6Gene_name : OR6C6;
LOEUF_bin : 7
GnomAD_pLI : 2.2211e-02
ExAC_pLI : 6.5838e-02
HI : .
TS : .
DDD_HI_percent : 83.56
ACMG : .
ExAC_cnvZ : 0.0573732196729461
ExAC_delZ : 0.302872746563069
ExAC_dupZ : -0.175945963240161
ExAC_synZ : -0.926794681853314
ExAC_misZ : -2.0752033051439
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283365
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005493
Tx_version : 2
Tx_start : 55293987
Tx_end : 55296569
Exon_count : 2
Overlapped_tx_length : 2582
Overlapped_CDS_length : 945
Overlapped_CDS_percent : 97
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55293987
Intersect_end : 55296569
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLIPR1L1Gene_name : GLIPR1L1;
LOEUF_bin : 7
GnomAD_pLI : 1.0546e-06
ExAC_pLI : 3.6634e-03
HI : .
TS : .
DDD_HI_percent : 97.71
ACMG : .
ExAC_cnvZ : 0.37952482008154
ExAC_delZ : 0.524528573917258
ExAC_dupZ : 0.126294668402342
ExAC_synZ : 0.749546936803167
ExAC_misZ : -1.0860872628501
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 256710
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_001304964
Tx_version : 2
Tx_start : 75334669
Tx_end : 75370560
Exon_count : 6
Overlapped_tx_length : 35891
Overlapped_CDS_length : 729
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75334669
Intersect_end : 75370560
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RHEBL1Gene_name : RHEBL1;
LOEUF_bin : 7
GnomAD_pLI : 2.1883e-06
ExAC_pLI : 3.2930e-06
HI : .
TS : .
DDD_HI_percent : 27.13
ACMG : .
ExAC_cnvZ : 0.171479386980904
ExAC_delZ : 1.10768051135995
ExAC_dupZ : -0.297548571958676
ExAC_synZ : 1.3886594982316
ExAC_misZ : 0.874832078912021
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121268
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_047428284
Tx_version : 1
Tx_start : 49065209
Tx_end : 49069979
Exon_count : 7
Overlapped_tx_length : 4770
Overlapped_CDS_length : 585
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49065209
Intersect_end : 49069979
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC35E3Gene_name : SLC35E3;
LOEUF_bin : 7
GnomAD_pLI : 5.8322e-07
ExAC_pLI : 4.0678e-04
HI : .
TS : .
DDD_HI_percent : 71.33
ACMG : .
ExAC_cnvZ : -0.487327361504122
ExAC_delZ : 0.586540804456861
ExAC_dupZ : -0.953660733053552
ExAC_synZ : 0.451653513007631
ExAC_misZ : 0.171977858602594
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55508
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_018656
Tx_version : 5
Tx_start : 68746175
Tx_end : 68781468
Exon_count : 5
Overlapped_tx_length : 35293
Overlapped_CDS_length : 942
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68746175
Intersect_end : 68781468
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SOAT2Gene_name : SOAT2;
LOEUF_bin : 7
GnomAD_pLI : 5.5830e-28
ExAC_pLI : 9.1012e-18
HI : .
TS : .
DDD_HI_percent : 62.24
ACMG : .
ExAC_cnvZ : -0.128570989933396
ExAC_delZ : -0.945320663310319
ExAC_dupZ : 0.431388921492489
ExAC_synZ : 0.737880259299199
ExAC_misZ : -0.452246056774059
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8435
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_003578
Tx_version : 4
Tx_start : 53103485
Tx_end : 53124535
Exon_count : 15
Overlapped_tx_length : 21050
Overlapped_CDS_length : 1569
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53103485
Intersect_end : 53124535
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYL6Gene_name : MYL6;
LOEUF_bin : 7
GnomAD_pLI : 6.5343e-04
ExAC_pLI : 2.5662e-01
HI : .
TS : .
DDD_HI_percent : 32.18
ACMG : .
ExAC_cnvZ : 0.827364139407921
ExAC_delZ : 0.981545394776457
ExAC_dupZ : 0.514969832733792
ExAC_synZ : 0.283131870146844
ExAC_misZ : 0.775688979332048
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4637
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_021019
Tx_version : 5
Tx_start : 56158358
Tx_end : 56161579
Exon_count : 7
Overlapped_tx_length : 3221
Overlapped_CDS_length : 456
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56158358
Intersect_end : 56161579
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HALGene_name : HAL;
LOEUF_bin : 7
GnomAD_pLI : 2.4971e-23
ExAC_pLI : 5.9087e-17
HI : .
TS : .
DDD_HI_percent : 14.77
ACMG : .
ExAC_cnvZ : -2.10897655437986
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.09057132173046
ExAC_synZ : -0.14854222418042
ExAC_misZ : -0.32582781461776
GenCC_disease : histidinemia
GenCC_moi : AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 15806399[PMID]
NCBI_gene_ID : 3034
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_002108
Tx_version : 4
Tx_start : 95972661
Tx_end : 95996344
Exon_count : 21
Overlapped_tx_length : 23683
Overlapped_CDS_length : 1974
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95972661
Intersect_end : 95996344
609457; OMIM_ID : 609457;
OMIM_phenotype : [Histidinemia], 235800 (3) AR,AD;
OMIM_inheritance : AR,AD
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM106CGene_name : TMEM106C;
LOEUF_bin : 7
GnomAD_pLI : 1.5025e-08
ExAC_pLI : 3.9602e-06
HI : .
TS : .
DDD_HI_percent : 62.28
ACMG : .
ExAC_cnvZ : -0.212497057281376
ExAC_delZ : -1.6841588503597
ExAC_dupZ : 1.03028764571254
ExAC_synZ : 0.0628503412088306
ExAC_misZ : 0.133350678210581
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79022
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001143842
Tx_version : 2
Tx_start : 47963595
Tx_end : 47968878
Exon_count : 8
Overlapped_tx_length : 5283
Overlapped_CDS_length : 753
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47963595
Intersect_end : 47968878
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR10AD1Gene_name : OR10AD1;
LOEUF_bin : 7
GnomAD_pLI : 8.5157e-03
ExAC_pLI : 3.5168e-03
HI : .
TS : .
DDD_HI_percent : 71.93
ACMG : .
ExAC_cnvZ : 0.338202120918484
ExAC_delZ : -0.0546189601389001
ExAC_dupZ : 0.317998488335553
ExAC_synZ : -1.03519619703434
ExAC_misZ : -1.15813859909381
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121275
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001004134
Tx_version : 1
Tx_start : 48202338
Tx_end : 48203292
Exon_count : 1
Overlapped_tx_length : 954
Overlapped_CDS_length : 954
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48202338
Intersect_end : 48203292
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PSMD9Gene_name : PSMD9;
LOEUF_bin : 7
GnomAD_pLI : 4.8603e-06
ExAC_pLI : 3.7763e-05
HI : .
TS : .
DDD_HI_percent : 47.41
ACMG : .
ExAC_cnvZ : 0.273709134888558
ExAC_delZ : -0.151674515772753
ExAC_dupZ : 0.404589082076063
ExAC_synZ : 0.985264702074772
ExAC_misZ : -0.00382521841321098
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5715
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_002813
Tx_version : 7
Tx_start : 121888789
Tx_end : 121918297
Exon_count : 6
Overlapped_tx_length : 29508
Overlapped_CDS_length : 672
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121888789
Intersect_end : 121918297
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PARPBPGene_name : PARPBP;
LOEUF_bin : 7
GnomAD_pLI : 1.1929e-16
ExAC_pLI : 9.6666e-13
HI : .
TS : .
DDD_HI_percent : 31.35
ACMG : .
ExAC_cnvZ : -0.281221235793319
ExAC_delZ : -0.122813846396462
ExAC_dupZ : -0.378387171615216
ExAC_synZ : -0.211366730687139
ExAC_misZ : -2.23188885888662
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55010
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001319988
Tx_version : 2
Tx_start : 102120182
Tx_end : 102197520
Exon_count : 12
Overlapped_tx_length : 77338
Overlapped_CDS_length : 1971
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102120182
Intersect_end : 102197520
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:102057222-102377222
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OAS3Gene_name : OAS3;
LOEUF_bin : 7
GnomAD_pLI : 1.9653e-33
ExAC_pLI : 1.8224e-23
HI : .
TS : .
DDD_HI_percent : 88.28
ACMG : .
ExAC_cnvZ : -2.34276667360624
ExAC_delZ : 0.590698450967653
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.287745401479928
ExAC_misZ : -0.482378250959373
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4940
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_006187
Tx_version : 4
Tx_start : 112938473
Tx_end : 112973251
Exon_count : 16
Overlapped_tx_length : 34778
Overlapped_CDS_length : 3264
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112938473
Intersect_end : 112973251
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IKBIPGene_name : IKBIP;
LOEUF_bin : 7
GnomAD_pLI : 7.6128e-08
ExAC_pLI : 9.5933e-05
HI : .
TS : .
DDD_HI_percent : 41.12
ACMG : .
ExAC_cnvZ : 0.675531833651274
ExAC_delZ : 0.245368868002326
ExAC_dupZ : 0.584638068368671
ExAC_synZ : -0.30446865162458
ExAC_misZ : -0.0609995367239393
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121457
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_153687
Tx_version : 4
Tx_start : 98624248
Tx_end : 98644788
Exon_count : 3
Overlapped_tx_length : 20540
Overlapped_CDS_length : 1134
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98624248
Intersect_end : 98644788
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM233Gene_name : TMEM233;
LOEUF_bin : 7
GnomAD_pLI : 9.0614e-02
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 55.95
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387890
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : 5'UTR-3'UTR
Tx : XM_005253880
Tx_version : 4
Tx_start : 119593773
Tx_end : 119633062
Exon_count : 3
Overlapped_tx_length : 39289
Overlapped_CDS_length : 432
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119593773
Intersect_end : 119633062
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT78Gene_name : KRT78;
LOEUF_bin : 7
GnomAD_pLI : 1.4942e-15
ExAC_pLI : 2.0564e-08
HI : .
TS : .
DDD_HI_percent : 80.17
ACMG : .
ExAC_cnvZ : 0.95984275783309
ExAC_delZ : 0.481976606382992
ExAC_dupZ : 0.860752507285962
ExAC_synZ : -0.18049706060943
ExAC_misZ : -1.74489168120548
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196374
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_173352
Tx_version : 4
Tx_start : 52837806
Tx_end : 52848994
Exon_count : 9
Overlapped_tx_length : 11188
Overlapped_CDS_length : 1563
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52837806
Intersect_end : 52848994
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLT8D2Gene_name : GLT8D2;
LOEUF_bin : 7
GnomAD_pLI : 1.7287e-14
ExAC_pLI : 3.3440e-07
HI : .
TS : .
DDD_HI_percent : 31.94
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.01089892126136
ExAC_misZ : -0.106145327998632
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83468
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001384712
Tx_version : 1
Tx_start : 103988986
Tx_end : 104050187
Exon_count : 10
Overlapped_tx_length : 61201
Overlapped_CDS_length : 1065
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103988986
Intersect_end : 104050187
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FBXW8Gene_name : FBXW8;
LOEUF_bin : 7
GnomAD_pLI : 5.2356e-16
ExAC_pLI : 8.6911e-13
HI : .
TS : .
DDD_HI_percent : 42.98
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.904302303841484
ExAC_misZ : -0.318032083440832
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26259
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : XM_024448937
Tx_version : 2
Tx_start : 116910949
Tx_end : 117031148
Exon_count : 12
Overlapped_tx_length : 120199
Overlapped_CDS_length : 1998
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116910949
Intersect_end : 117031148
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYO1AGene_name : MYO1A;
LOEUF_bin : 7
GnomAD_pLI : 8.8970e-46
ExAC_pLI : 1.9452e-35
HI : .
TS : .
DDD_HI_percent : 48.45
ACMG : .
ExAC_cnvZ : 1.38811165066672
ExAC_delZ : 1.53770167959187
ExAC_dupZ : 0.992183499319304
ExAC_synZ : -0.642876828196212
ExAC_misZ : -1.20067895680801
GenCC_disease : nonsyndromic genetic hearing loss
GenCC_moi : AD
GenCC_classification : Refuted Evidence
GenCC_pmid : .
NCBI_gene_ID : 4640
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001256041
Tx_version : 2
Tx_start : 57028516
Tx_end : 57051198
Exon_count : 29
Overlapped_tx_length : 22682
Overlapped_CDS_length : 3132
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57028516
Intersect_end : 57051198
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT79Gene_name : KRT79;
LOEUF_bin : 7
GnomAD_pLI : 9.8728e-17
ExAC_pLI : 2.9865e-10
HI : .
TS : .
DDD_HI_percent : 82.14
ACMG : .
ExAC_cnvZ : 0.709648624919437
ExAC_delZ : 0.55652891244443
ExAC_dupZ : 0.53286855426849
ExAC_synZ : -0.51683691304778
ExAC_misZ : -0.526729993139687
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338785
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_175834
Tx_version : 3
Tx_start : 52821407
Tx_end : 52834311
Exon_count : 9
Overlapped_tx_length : 12904
Overlapped_CDS_length : 1608
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52821407
Intersect_end : 52834311
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RHOFGene_name : RHOF;
LOEUF_bin : 7
GnomAD_pLI : 1.7569e-04
ExAC_pLI : 5.2074e-03
HI : .
TS : .
DDD_HI_percent : 51.6
ACMG : .
ExAC_cnvZ : 0.72272563437945
ExAC_delZ : 0.243995232407319
ExAC_dupZ : 0.683671341839193
ExAC_synZ : 0.270473669375721
ExAC_misZ : 0.244416650107023
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54509
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_019034
Tx_version : 3
Tx_start : 121777753
Tx_end : 121793688
Exon_count : 5
Overlapped_tx_length : 15935
Overlapped_CDS_length : 636
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121777753
Intersect_end : 121793688
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT7Gene_name : KRT7;
LOEUF_bin : 7
GnomAD_pLI : 3.0861e-12
ExAC_pLI : 2.7864e-09
HI : .
TS : .
DDD_HI_percent : 59.8
ACMG : .
ExAC_cnvZ : 0.0670709836039037
ExAC_delZ : -0.562682523699815
ExAC_dupZ : 0.484361720500886
ExAC_synZ : 1.78453228879037
ExAC_misZ : 0.731149729901137
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3855
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_005556
Tx_version : 4
Tx_start : 52233242
Tx_end : 52248921
Exon_count : 9
Overlapped_tx_length : 15679
Overlapped_CDS_length : 1410
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52233242
Intersect_end : 52248921
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf43Gene_name : C12orf43;
LOEUF_bin : 7
GnomAD_pLI : 1.0484e-04
ExAC_pLI : 2.5601e-07
HI : .
TS : .
DDD_HI_percent : 84.86
ACMG : .
ExAC_cnvZ : -0.00900755439646285
ExAC_delZ : 0.5692475336751
ExAC_dupZ : -0.326190547534549
ExAC_synZ : 0.840582014851394
ExAC_misZ : 0.423326972309958
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64897
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001286191
Tx_version : 2
Tx_start : 121000485
Tx_end : 121016487
Exon_count : 6
Overlapped_tx_length : 16002
Overlapped_CDS_length : 882
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121000485
Intersect_end : 121016487
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Maturity-onset_diabetes_of_the_young_type_3; Monogenic_diabetes
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LIN7AGene_name : LIN7A;
LOEUF_bin : 7
GnomAD_pLI : 1.1286e-07
ExAC_pLI : 4.1148e-02
HI : .
TS : .
DDD_HI_percent : 18.84
ACMG : .
ExAC_cnvZ : 0.155012031067607
ExAC_delZ : -0.25867602546172
ExAC_dupZ : 0.299713293709397
ExAC_synZ : 0.625892525190641
ExAC_misZ : 0.624960807097594
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8825
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_004664
Tx_version : 4
Tx_start : 80792519
Tx_end : 80937934
Exon_count : 6
Overlapped_tx_length : 145415
Overlapped_CDS_length : 702
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80792519
Intersect_end : 80937934
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CAPS2Gene_name : CAPS2;
LOEUF_bin : 7
GnomAD_pLI : 6.0736e-24
ExAC_pLI : 2.6507e-09
HI : .
TS : .
DDD_HI_percent : 67.95
ACMG : .
ExAC_cnvZ : 0.693898350754801
ExAC_delZ : 0.850318954093822
ExAC_dupZ : 0.395315779607074
ExAC_synZ : -0.938474396363098
ExAC_misZ : -0.724818856192152
GenCC_disease : intellectual disability
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 93664
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1-q21.2
Location2 : 5'UTR-3'UTR
Tx : XM_047429724
Tx_version : 1
Tx_start : 75275978
Tx_end : 75390901
Exon_count : 24
Overlapped_tx_length : 114923
Overlapped_CDS_length : 1845
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75275978
Intersect_end : 75390901
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
INHBEGene_name : INHBE;
LOEUF_bin : 7
GnomAD_pLI : 1.1184e-08
ExAC_pLI : 7.6803e-06
HI : .
TS : .
DDD_HI_percent : 1
ACMG : .
ExAC_cnvZ : 0.114741190707441
ExAC_delZ : -0.454256435531319
ExAC_dupZ : 0.444975018186728
ExAC_synZ : -0.632496523155062
ExAC_misZ : 0.716713595245474
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83729
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_031479
Tx_version : 5
Tx_start : 57455306
Tx_end : 57458025
Exon_count : 2
Overlapped_tx_length : 2719
Overlapped_CDS_length : 1053
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57455306
Intersect_end : 57458025
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NDUFA4L2Gene_name : NDUFA4L2;
LOEUF_bin : 7
GnomAD_pLI : 8.6367e-02
ExAC_pLI : 1.4252e-02
HI : .
TS : .
DDD_HI_percent : 52
ACMG : .
ExAC_cnvZ : 0.664947836409456
ExAC_delZ : -0.0269773321180296
ExAC_dupZ : 0.866916805579503
ExAC_synZ : 0.229735726123968
ExAC_misZ : -1.02843169398929
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56901
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_020142
Tx_version : 4
Tx_start : 57234902
Tx_end : 57240762
Exon_count : 5
Overlapped_tx_length : 5860
Overlapped_CDS_length : 264
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57234902
Intersect_end : 57240762
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BCDIN3DGene_name : BCDIN3D;
LOEUF_bin : 7
GnomAD_pLI : 3.8663e-05
ExAC_pLI : 5.0391e-03
HI : .
TS : .
DDD_HI_percent : 51.48
ACMG : .
ExAC_cnvZ : 0.453243368843188
ExAC_delZ : -0.118231668005276
ExAC_dupZ : 0.751712586511647
ExAC_synZ : 0.999836478481519
ExAC_misZ : -0.0151456357068313
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144233
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_181708
Tx_version : 3
Tx_start : 49836042
Tx_end : 49843106
Exon_count : 2
Overlapped_tx_length : 7064
Overlapped_CDS_length : 879
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49836042
Intersect_end : 49843106
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC63Gene_name : CCDC63;
LOEUF_bin : 7
GnomAD_pLI : 5.2679e-19
ExAC_pLI : 4.4804e-10
HI : .
TS : .
DDD_HI_percent : 79.81
ACMG : .
ExAC_cnvZ : 0.174887721683294
ExAC_delZ : 0.229239407409943
ExAC_dupZ : 0.0694628628430053
ExAC_synZ : -0.260954984593402
ExAC_misZ : -0.876661642104336
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160762
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : XM_011538001
Tx_version : 3
Tx_start : 110844485
Tx_end : 110907535
Exon_count : 13
Overlapped_tx_length : 63050
Overlapped_CDS_length : 1692
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110844485
Intersect_end : 110907535
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPRYD4Gene_name : SPRYD4;
LOEUF_bin : 7
GnomAD_pLI : 7.9114e-03
ExAC_pLI : 5.8921e-04
HI : .
TS : .
DDD_HI_percent : 44.59
ACMG : .
ExAC_cnvZ : 0.987418092894276
ExAC_delZ : 0.898600275775615
ExAC_dupZ : 0.737245202293846
ExAC_synZ : 0.14223728998022
ExAC_misZ : 1.0302536953086
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283377
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_207344
Tx_version : 4
Tx_start : 56468577
Tx_end : 56479708
Exon_count : 2
Overlapped_tx_length : 11131
Overlapped_CDS_length : 624
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56468577
Intersect_end : 56479708
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AVPR1AGene_name : AVPR1A;
LOEUF_bin : 7
GnomAD_pLI : 6.8987e-07
ExAC_pLI : 1.2865e-05
HI : .
TS : .
DDD_HI_percent : 43.64
ACMG : .
ExAC_cnvZ : -0.0467120283149655
ExAC_delZ : -0.792912951274648
ExAC_dupZ : 0.476760300541057
ExAC_synZ : 2.69541068001228
ExAC_misZ : 3.08861898162895
GenCC_disease : autism spectrum disorder
GenCC_moi : .
GenCC_classification : Disputed Evidence
GenCC_pmid : .
NCBI_gene_ID : 552
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_000706
Tx_version : 5
Tx_start : 63142758
Tx_end : 63151201
Exon_count : 2
Overlapped_tx_length : 8443
Overlapped_CDS_length : 1257
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63142758
Intersect_end : 63151201
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:63119437-63228668; chr12:63141020-63191370
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT77Gene_name : KRT77;
LOEUF_bin : 7
GnomAD_pLI : 1.4217e-12
ExAC_pLI : 1.0529e-06
HI : .
TS : .
DDD_HI_percent : 82.41
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.3877081521515
ExAC_synZ : 0.7667170083646
ExAC_misZ : 0.104870645154442
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 374454
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_175078
Tx_version : 3
Tx_start : 52689625
Tx_end : 52703524
Exon_count : 9
Overlapped_tx_length : 13899
Overlapped_CDS_length : 1737
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52689625
Intersect_end : 52703524
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYRFLGene_name : MYRFL;
LOEUF_bin : 7
GnomAD_pLI : 3.0843e-09
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 49.21
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196446
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_182530
Tx_version : 3
Tx_start : 69825226
Tx_end : 69959097
Exon_count : 25
Overlapped_tx_length : 133871
Overlapped_CDS_length : 2733
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69825226
Intersect_end : 69959097
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYL6BGene_name : MYL6B;
LOEUF_bin : 7
GnomAD_pLI : 6.0924e-06
ExAC_pLI : 3.7338e-03
HI : .
TS : .
DDD_HI_percent : 40.25
ACMG : .
ExAC_cnvZ : 1.02677667042279
ExAC_delZ : 0.896911904644992
ExAC_dupZ : 0.780379649269521
ExAC_synZ : 0.83127687780223
ExAC_misZ : -0.121866950807769
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140465
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001199629
Tx_version : 2
Tx_start : 56152586
Tx_end : 56157982
Exon_count : 8
Overlapped_tx_length : 5396
Overlapped_CDS_length : 627
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56152586
Intersect_end : 56157982
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TSPAN11Gene_name : TSPAN11;
LOEUF_bin : 7
GnomAD_pLI : 6.9450e-07
ExAC_pLI : 2.9598e-05
HI : .
TS : .
DDD_HI_percent : 74.79
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.539336494181121
ExAC_misZ : -0.328189698701632
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 441631
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : XM_011520679
Tx_version : 3
Tx_start : 30926747
Tx_end : 31005033
Exon_count : 9
Overlapped_tx_length : 78286
Overlapped_CDS_length : 909
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 30926747
Intersect_end : 31005033
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C2Gene_name : OR6C2;
LOEUF_bin : 7
GnomAD_pLI : 9.2283e-02
ExAC_pLI : 6.5829e-01
HI : .
TS : .
DDD_HI_percent : 86.78
ACMG : .
ExAC_cnvZ : 0.525155398413481
ExAC_delZ : 0.806176809631845
ExAC_dupZ : 0.201093716015534
ExAC_synZ : -1.62433182586077
ExAC_misZ : -3.26682402573016
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 341416
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_054105
Tx_version : 2
Tx_start : 55444075
Tx_end : 55453347
Exon_count : 2
Overlapped_tx_length : 9272
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 82
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55444075
Intersect_end : 55453347
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DCDGene_name : DCD;
LOEUF_bin : 8
GnomAD_pLI : 1.5781e-04
ExAC_pLI : 3.6107e-03
HI : .
TS : .
DDD_HI_percent : 93.92
ACMG : .
ExAC_cnvZ : 0.769637245024567
ExAC_delZ : 0.271440160952079
ExAC_dupZ : 0.71560170843918
ExAC_synZ : 0.20245954494277
ExAC_misZ : -0.767066743332536
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 117159
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001300854
Tx_version : 2
Tx_start : 54644588
Tx_end : 54648365
Exon_count : 6
Overlapped_tx_length : 3777
Overlapped_CDS_length : 366
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54644588
Intersect_end : 54648365
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC5Gene_name : HOXC5;
LOEUF_bin : 8
GnomAD_pLI : 5.7754e-05
ExAC_pLI : 3.9074e-02
HI : .
TS : .
DDD_HI_percent : 5.39
ACMG : .
ExAC_cnvZ : 0.770790874022807
ExAC_delZ : 0.321550372578957
ExAC_dupZ : 0.685373760965442
ExAC_synZ : 2.70233211535844
ExAC_misZ : 0.984748958473296
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3222
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_018953
Tx_version : 4
Tx_start : 54033049
Tx_end : 54035361
Exon_count : 2
Overlapped_tx_length : 2312
Overlapped_CDS_length : 669
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54033049
Intersect_end : 54035361
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RDH16Gene_name : RDH16;
LOEUF_bin : 8
GnomAD_pLI : 4.3901e-07
ExAC_pLI : 8.5988e-05
HI : .
TS : .
DDD_HI_percent : 81.69
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.463146980828832
ExAC_misZ : -0.507892332716286
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8608
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_003708
Tx_version : 5
Tx_start : 56951430
Tx_end : 56957608
Exon_count : 4
Overlapped_tx_length : 6178
Overlapped_CDS_length : 954
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56951430
Intersect_end : 56957608
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:56939286-56982828; chr12:56940163-56988848; chr12:56941015-56984216
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZNF664Gene_name : ZNF664;
LOEUF_bin : 8
GnomAD_pLI : 1.3267e-03
ExAC_pLI : 1.6268e-03
HI : .
TS : .
DDD_HI_percent : 52
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.522115527071865
ExAC_misZ : 2.63871500801654
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144348
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001204298
Tx_version : 2
Tx_start : 123973214
Tx_end : 124015427
Exon_count : 5
Overlapped_tx_length : 42213
Overlapped_CDS_length : 786
Overlapped_CDS_percent : 23
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123973214
Intersect_end : 124015427
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMBIM4Gene_name : TMBIM4;
LOEUF_bin : 8
GnomAD_pLI : 3.8876e-06
ExAC_pLI : 2.0800e-03
HI : .
TS : .
DDD_HI_percent : 43.64
ACMG : .
ExAC_cnvZ : -1.23087798328857
ExAC_delZ : -1.70590570872777
ExAC_dupZ : -0.923006534527363
ExAC_synZ : 0.846526367035289
ExAC_misZ : 0.132998332375928
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51643
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : 5'UTR-3'UTR
Tx : NM_001282606
Tx_version : 2
Tx_start : 66135845
Tx_end : 66169996
Exon_count : 8
Overlapped_tx_length : 34151
Overlapped_CDS_length : 858
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66135845
Intersect_end : 66169996
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SELPLGGene_name : SELPLG;
LOEUF_bin : 8
GnomAD_pLI : 1.7680e-01
ExAC_pLI : 4.9544e-03
HI : .
TS : .
DDD_HI_percent : 92.51
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.358156347117146
ExAC_misZ : -0.564719135711666
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6404
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001206609
Tx_version : 2
Tx_start : 108621894
Tx_end : 108632081
Exon_count : 2
Overlapped_tx_length : 10187
Overlapped_CDS_length : 1287
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108621894
Intersect_end : 108632081
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNRNP35Gene_name : SNRNP35;
LOEUF_bin : 8
GnomAD_pLI : 7.1094e-09
ExAC_pLI : 2.2833e-07
HI : .
TS : .
DDD_HI_percent : 61.24
ACMG : .
ExAC_cnvZ : -0.0747144344113003
ExAC_delZ : 0.0442291951835645
ExAC_dupZ : -0.203648896185673
ExAC_synZ : 0.0870748689217845
ExAC_misZ : 1.18366711473414
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11066
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_180699
Tx_version : 3
Tx_start : 123459703
Tx_end : 123466394
Exon_count : 2
Overlapped_tx_length : 6691
Overlapped_CDS_length : 756
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123459703
Intersect_end : 123466394
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C74Gene_name : OR6C74;
LOEUF_bin : 8
GnomAD_pLI : 3.3696e-03
ExAC_pLI : 7.8009e-02
HI : .
TS : .
DDD_HI_percent : 82.57
ACMG : .
ExAC_cnvZ : 0.342978926834846
ExAC_delZ : 0.873037523461837
ExAC_dupZ : -0.0398840543256744
ExAC_synZ : -1.14482392648496
ExAC_misZ : -0.101483438786911
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 254783
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005490
Tx_version : 2
Tx_start : 55244608
Tx_end : 55256625
Exon_count : 2
Overlapped_tx_length : 12017
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 10
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55244608
Intersect_end : 55256625
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IL22Gene_name : IL22;
LOEUF_bin : 8
GnomAD_pLI : 1.8843e-04
ExAC_pLI : 4.9072e-01
HI : .
TS : .
DDD_HI_percent : 78.67
ACMG : .
ExAC_cnvZ : 0.165276724199379
ExAC_delZ : 0.227910876575666
ExAC_dupZ : 0.0516241385200917
ExAC_synZ : -0.365428487483775
ExAC_misZ : 0.193046906512468
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 50616
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : 5'UTR-3'UTR
Tx : NM_020525
Tx_version : 5
Tx_start : 68248241
Tx_end : 68253604
Exon_count : 6
Overlapped_tx_length : 5363
Overlapped_CDS_length : 540
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68248241
Intersect_end : 68253604
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DAOGene_name : DAO;
LOEUF_bin : 8
GnomAD_pLI : 6.2271e-22
ExAC_pLI : 9.2625e-15
HI : .
TS : .
DDD_HI_percent : 46.67
ACMG : .
ExAC_cnvZ : -1.6404133097334
ExAC_delZ : -0.00784778315129917
ExAC_dupZ : -2.22236438902246
ExAC_synZ : -0.272675714405265
ExAC_misZ : 0.00171840082311713
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Moderate; Refuted Evidence; Supportive
GenCC_pmid : 24085347[PMID]_20368421[PMID]
NCBI_gene_ID : 26
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001413634
Tx_version : 1
Tx_start : 108880091
Tx_end : 108901043
Exon_count : 12
Overlapped_tx_length : 20952
Overlapped_CDS_length : 1044
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108880091
Intersect_end : 108901043
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC59Gene_name : CCDC59;
LOEUF_bin : 8
GnomAD_pLI : 4.0319e-11
ExAC_pLI : 6.8049e-04
HI : .
TS : .
DDD_HI_percent : 71.17
ACMG : .
ExAC_cnvZ : -0.50340220320127
ExAC_delZ : -1.2945500795499
ExAC_dupZ : 0.0892167078646006
ExAC_synZ : -0.483208703252483
ExAC_misZ : -1.03996132036715
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29080
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_014167
Tx_version : 5
Tx_start : 82352302
Tx_end : 82358387
Exon_count : 4
Overlapped_tx_length : 6085
Overlapped_CDS_length : 726
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 82352302
Intersect_end : 82358387
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DEPDC4Gene_name : DEPDC4;
LOEUF_bin : 8
GnomAD_pLI : 1.0075e-09
ExAC_pLI : 4.1042e-09
HI : .
TS : .
DDD_HI_percent : 78.08
ACMG : .
ExAC_cnvZ : -1.70499700231813
ExAC_delZ : -1.48382850545664
ExAC_dupZ : -1.78252225310257
ExAC_synZ : -0.467586289326297
ExAC_misZ : -0.912616276375855
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120863
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001387201
Tx_version : 1
Tx_start : 100237797
Tx_end : 100267079
Exon_count : 11
Overlapped_tx_length : 29282
Overlapped_CDS_length : 1668
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100237797
Intersect_end : 100267079
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NTSGene_name : NTS;
LOEUF_bin : 8
GnomAD_pLI : 3.8527e-05
ExAC_pLI : 7.9710e-06
HI : .
TS : .
DDD_HI_percent : 1.64
ACMG : .
ExAC_cnvZ : -0.757309108176063
ExAC_delZ : -0.165026579102773
ExAC_dupZ : -1.01636287570723
ExAC_synZ : -0.0283920041644439
ExAC_misZ : -0.983873171522391
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4922
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_006183
Tx_version : 5
Tx_start : 85874294
Tx_end : 85882992
Exon_count : 4
Overlapped_tx_length : 8698
Overlapped_CDS_length : 513
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85874294
Intersect_end : 85882992
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:85871427-85894460
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HCAR2Gene_name : HCAR2;
LOEUF_bin : 8
GnomAD_pLI : 1.8933e-04
ExAC_pLI : 2.0109e-02
HI : .
TS : .
DDD_HI_percent : 77.71
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.48735169230209
ExAC_misZ : 2.31396493824121
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338442
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_177551
Tx_version : 4
Tx_start : 122701292
Tx_end : 122703357
Exon_count : 1
Overlapped_tx_length : 2065
Overlapped_CDS_length : 1092
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122701292
Intersect_end : 122703357
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:122696453-122709203; chr12:122701033-122714056
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MAP1LC3B2Gene_name : MAP1LC3B2;
LOEUF_bin : 8
GnomAD_pLI : 1.2693e-02
ExAC_pLI : 2.3706e-02
HI : .
TS : .
DDD_HI_percent : 85.94
ACMG : .
ExAC_cnvZ : 1.11691353205032
ExAC_delZ : 1.05968937723301
ExAC_dupZ : 0.822761560209532
ExAC_synZ : 0.314331667990693
ExAC_misZ : 0.515559601193796
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 643246
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : NM_001085481
Tx_version : 3
Tx_start : 116559380
Tx_end : 116576606
Exon_count : 2
Overlapped_tx_length : 17226
Overlapped_CDS_length : 378
Overlapped_CDS_percent : 56
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116559380
Intersect_end : 116576606
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
B3GNT4Gene_name : B3GNT4;
LOEUF_bin : 8
GnomAD_pLI : 7.6758e-07
ExAC_pLI : 3.9367e-06
HI : .
TS : .
DDD_HI_percent : 72.69
ACMG : .
ExAC_cnvZ : -0.757563761990644
ExAC_delZ : -1.3740570017859
ExAC_dupZ : -0.234404548505644
ExAC_synZ : -1.91931736733998
ExAC_misZ : -2.35707377328396
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79369
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_030765
Tx_version : 4
Tx_start : 122203708
Tx_end : 122208952
Exon_count : 3
Overlapped_tx_length : 5244
Overlapped_CDS_length : 1137
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122203708
Intersect_end : 122208952
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRR13Gene_name : PRR13;
LOEUF_bin : 8
GnomAD_pLI : 1.3585e-02
ExAC_pLI : 6.3433e-01
HI : .
TS : .
DDD_HI_percent : 70.96
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 1.43834743248902
ExAC_misZ : 1.35982089683062
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54458
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_018457
Tx_version : 4
Tx_start : 53441733
Tx_end : 53446638
Exon_count : 4
Overlapped_tx_length : 4905
Overlapped_CDS_length : 447
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53441733
Intersect_end : 53446638
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C3Gene_name : OR6C3;
LOEUF_bin : 8
GnomAD_pLI : 3.0733e-03
ExAC_pLI : 1.2312e-04
HI : .
TS : .
DDD_HI_percent : 79.91
ACMG : .
ExAC_cnvZ : -0.487554705093517
ExAC_delZ : 1.10289135235701
ExAC_dupZ : -1.09671987585536
ExAC_synZ : -1.83398365134245
ExAC_misZ : -2.43656681254489
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 254786
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_054104
Tx_version : 2
Tx_start : 55330042
Tx_end : 55332636
Exon_count : 2
Overlapped_tx_length : 2594
Overlapped_CDS_length : 936
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55330042
Intersect_end : 55332636
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf54Gene_name : C12orf54;
LOEUF_bin : 8
GnomAD_pLI : 1.1347e-07
ExAC_pLI : 4.1674e-03
HI : .
TS : .
DDD_HI_percent : 87.79
ACMG : .
ExAC_cnvZ : 1.21364820483769
ExAC_delZ : 0.750314050110253
ExAC_dupZ : 1.04235556192145
ExAC_synZ : -0.379097243082263
ExAC_misZ : -0.515830681522921
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121273
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_017018796
Tx_version : 2
Tx_start : 48413153
Tx_end : 48496524
Exon_count : 13
Overlapped_tx_length : 83371
Overlapped_CDS_length : 402
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48413153
Intersect_end : 48496524
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C76Gene_name : OR6C76;
LOEUF_bin : 8
GnomAD_pLI : 2.3904e-03
ExAC_pLI : 1.0218e-03
HI : .
TS : .
DDD_HI_percent : 84.48
ACMG : .
ExAC_cnvZ : 0.309167171553086
ExAC_delZ : 0.573263045982698
ExAC_dupZ : 0.0230923146005234
ExAC_synZ : -1.3196031913276
ExAC_misZ : -0.380282448060739
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 390326
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005183
Tx_version : 1
Tx_start : 55426253
Tx_end : 55427192
Exon_count : 1
Overlapped_tx_length : 939
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55426253
Intersect_end : 55427192
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:55424170-55432139
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GPR84Gene_name : GPR84;
LOEUF_bin : 8
GnomAD_pLI : 3.2998e-09
ExAC_pLI : 2.7221e-07
HI : .
TS : .
DDD_HI_percent : 52.56
ACMG : .
ExAC_cnvZ : 0.897876715040533
ExAC_delZ : 0.577522803394942
ExAC_dupZ : 0.751470949646872
ExAC_synZ : -0.375315961298194
ExAC_misZ : -0.111972264734366
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 53831
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_020370
Tx_version : 3
Tx_start : 54362444
Tx_end : 54364486
Exon_count : 2
Overlapped_tx_length : 2042
Overlapped_CDS_length : 1191
Overlapped_CDS_percent : 99
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54362444
Intersect_end : 54364486
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATXN7L3BGene_name : ATXN7L3B;
LOEUF_bin : 8
GnomAD_pLI : 1.4683e-01
ExAC_pLI : 9.7961e-02
HI : .
TS : .
DDD_HI_percent : 58.5
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.503226721639283
ExAC_misZ : 0.429011175493995
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 552889
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_001136262
Tx_version : 2
Tx_start : 74537834
Tx_end : 74545430
Exon_count : 1
Overlapped_tx_length : 7596
Overlapped_CDS_length : 294
Overlapped_CDS_percent : 4
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74537834
Intersect_end : 74545430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PLEKHG7Gene_name : PLEKHG7;
LOEUF_bin : 8
GnomAD_pLI : 1.8917e-19
ExAC_pLI : 3.6750e-11
HI : .
TS : .
DDD_HI_percent : 59.79
ACMG : .
ExAC_cnvZ : 0.405167761980724
ExAC_delZ : 1.03523039938074
ExAC_dupZ : -0.0335765387580131
ExAC_synZ : 0.125263737516639
ExAC_misZ : -0.957601706748908
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440107
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : 5'UTR-3'UTR
Tx : XM_047428867
Tx_version : 1
Tx_start : 92703283
Tx_end : 92772455
Exon_count : 17
Overlapped_tx_length : 69172
Overlapped_CDS_length : 2298
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92703283
Intersect_end : 92772455
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RASSF3Gene_name : RASSF3;
LOEUF_bin : 8
GnomAD_pLI : 1.7804e-05
ExAC_pLI : 1.5979e-03
HI : .
TS : .
DDD_HI_percent : 57.64
ACMG : .
ExAC_cnvZ : -0.413278768268237
ExAC_delZ : 0.547771486925727
ExAC_dupZ : -0.806529699041781
ExAC_synZ : -0.144530728827755
ExAC_misZ : -0.475477615651073
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283349
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : XM_047428711
Tx_version : 1
Tx_start : 64507190
Tx_end : 64697564
Exon_count : 6
Overlapped_tx_length : 190374
Overlapped_CDS_length : 855
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64507190
Intersect_end : 64697564
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TRIAP1Gene_name : TRIAP1;
LOEUF_bin : 8
GnomAD_pLI : 5.6508e-02
ExAC_pLI : 5.9022e-01
HI : .
TS : .
DDD_HI_percent : 13.44
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.607198266351635
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.771745164178418
ExAC_misZ : 1.11299622460478
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51499
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_016399
Tx_version : 3
Tx_start : 120443963
Tx_end : 120446384
Exon_count : 2
Overlapped_tx_length : 2421
Overlapped_CDS_length : 231
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120443963
Intersect_end : 120446384
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf56Gene_name : C12orf56;
LOEUF_bin : 8
GnomAD_pLI : 6.8904e-16
ExAC_pLI : 2.9093e-11
HI : .
TS : .
DDD_HI_percent : 67.57
ACMG : .
ExAC_cnvZ : 0.373915663148209
ExAC_delZ : 0.504457765648901
ExAC_dupZ : 0.156019324756628
ExAC_synZ : 0.292977837680856
ExAC_misZ : 0.0533227387732975
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 115749
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_001170633
Tx_version : 2
Tx_start : 64264761
Tx_end : 64390758
Exon_count : 13
Overlapped_tx_length : 125997
Overlapped_CDS_length : 1869
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64264761
Intersect_end : 64390758
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
THAP2Gene_name : THAP2;
LOEUF_bin : 8
GnomAD_pLI : 1.5504e-07
ExAC_pLI : 5.1653e-05
HI : .
TS : .
DDD_HI_percent : 23.62
ACMG : .
ExAC_cnvZ : 0.537228391979607
ExAC_delZ : 0.170696654091575
ExAC_dupZ : 0.578776018524571
ExAC_synZ : 1.49692523159972
ExAC_misZ : -0.141510875083072
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83591
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : 5'UTR-3'UTR
Tx : NM_031435
Tx_version : 4
Tx_start : 71664300
Tx_end : 71680644
Exon_count : 3
Overlapped_tx_length : 16344
Overlapped_CDS_length : 687
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71664300
Intersect_end : 71680644
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OASLGene_name : OASL;
LOEUF_bin : 8
GnomAD_pLI : 2.7573e-11
ExAC_pLI : 5.0729e-12
HI : .
TS : .
DDD_HI_percent : 77.14
ACMG : .
ExAC_cnvZ : -0.0695677258789631
ExAC_delZ : 0.51618591727381
ExAC_dupZ : -0.380389941729259
ExAC_synZ : 0.398429587309712
ExAC_misZ : -0.686856045081505
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8638
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_003733
Tx_version : 4
Tx_start : 121019110
Tx_end : 121039246
Exon_count : 6
Overlapped_tx_length : 20136
Overlapped_CDS_length : 1545
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121019110
Intersect_end : 121039246
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DNAJC22Gene_name : DNAJC22;
LOEUF_bin : 8
GnomAD_pLI : 2.9031e-06
ExAC_pLI : 1.1078e-05
HI : .
TS : .
DDD_HI_percent : 41.7
ACMG : .
ExAC_cnvZ : 0.59214592191512
ExAC_delZ : 0.778674638720046
ExAC_dupZ : 0.343084505774134
ExAC_synZ : -1.17611611597495
ExAC_misZ : -1.36530763474633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79962
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001304944
Tx_version : 2
Tx_start : 49346887
Tx_end : 49353690
Exon_count : 4
Overlapped_tx_length : 6803
Overlapped_CDS_length : 1026
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49346887
Intersect_end : 49353690
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RITA1Gene_name : RITA1;
LOEUF_bin : 8
GnomAD_pLI : 3.7970e-03
ExAC_pLI : 6.0807e-04
HI : .
TS : .
DDD_HI_percent : 86.43
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84934
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : NM_001286215
Tx_version : 2
Tx_start : 113185720
Tx_end : 113192368
Exon_count : 3
Overlapped_tx_length : 6648
Overlapped_CDS_length : 882
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113185720
Intersect_end : 113192368
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPL41Gene_name : RPL41;
LOEUF_bin : 8
GnomAD_pLI : 1.8377e-01
ExAC_pLI : 4.1530e-02
HI : .
TS : .
DDD_HI_percent : 17.94
ACMG : .
ExAC_cnvZ : 0.521796450770897
ExAC_delZ : 0.10849618840624
ExAC_dupZ : 0.589838106649493
ExAC_synZ : -0.0862186672729318
ExAC_misZ : 0.552716741133633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6171
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001035267
Tx_version : 2
Tx_start : 56116632
Tx_end : 56117967
Exon_count : 3
Overlapped_tx_length : 1335
Overlapped_CDS_length : 78
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56116632
Intersect_end : 56117967
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
POP5Gene_name : POP5;
LOEUF_bin : 8
GnomAD_pLI : 4.1420e-07
ExAC_pLI : 1.2800e-05
HI : .
TS : .
DDD_HI_percent : 30.23
ACMG : .
ExAC_cnvZ : 0.512392109561881
ExAC_delZ : 0.104528499636073
ExAC_dupZ : 0.580502230144457
ExAC_synZ : 0.983416309041938
ExAC_misZ : 1.12357493953226
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51367
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_011538441
Tx_version : 2
Tx_start : 120578763
Tx_end : 120581402
Exon_count : 5
Overlapped_tx_length : 2639
Overlapped_CDS_length : 546
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120578763
Intersect_end : 120581402
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT82Gene_name : KRT82;
LOEUF_bin : 8
GnomAD_pLI : 4.6454e-18
ExAC_pLI : 2.6120e-16
HI : .
TS : .
DDD_HI_percent : 59.86
ACMG : .
ExAC_cnvZ : 0.76392688213059
ExAC_delZ : 0.35937399577917
ExAC_dupZ : 0.835584614784939
ExAC_synZ : -1.50356124332495
ExAC_misZ : -1.00202591005443
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3888
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_033033
Tx_version : 4
Tx_start : 52393930
Tx_end : 52406335
Exon_count : 9
Overlapped_tx_length : 12405
Overlapped_CDS_length : 1542
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52393930
Intersect_end : 52406335
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LACRTGene_name : LACRT;
LOEUF_bin : 8
GnomAD_pLI : 1.1870e-04
ExAC_pLI : 8.8785e-05
HI : .
TS : .
DDD_HI_percent : 99.86
ACMG : .
ExAC_cnvZ : 1.27700296782339
ExAC_delZ : 1.17151266899092
ExAC_dupZ : 0.971164666133629
ExAC_synZ : -0.106455360888759
ExAC_misZ : -1.21408570310779
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 90070
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_033277
Tx_version : 2
Tx_start : 54630810
Tx_end : 54634895
Exon_count : 5
Overlapped_tx_length : 4085
Overlapped_CDS_length : 417
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54630810
Intersect_end : 54634895
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CSRP2Gene_name : CSRP2;
LOEUF_bin : 8
GnomAD_pLI : 4.7690e-07
ExAC_pLI : 3.0523e-04
HI : .
TS : .
DDD_HI_percent : 31.53
ACMG : .
ExAC_cnvZ : 0.586375305040214
ExAC_delZ : 0.431671002792048
ExAC_dupZ : 0.417802829724513
ExAC_synZ : -0.633753401116468
ExAC_misZ : 0.454524037766343
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1466
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : 5'UTR-3'UTR
Tx : NM_001413539
Tx_version : 1
Tx_start : 76858708
Tx_end : 76879019
Exon_count : 7
Overlapped_tx_length : 20311
Overlapped_CDS_length : 732
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76858708
Intersect_end : 76879019
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C75Gene_name : OR6C75;
LOEUF_bin : 8
GnomAD_pLI : 1.8817e-02
ExAC_pLI : 4.8478e-02
HI : .
TS : .
DDD_HI_percent : 70.11
ACMG : .
ExAC_cnvZ : 0.400542979167244
ExAC_delZ : 0.665895794097513
ExAC_dupZ : 0.102499365408615
ExAC_synZ : -1.2223177347198
ExAC_misZ : -0.60671975440715
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 390323
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005497
Tx_version : 2
Tx_start : 55362974
Tx_end : 55369279
Exon_count : 3
Overlapped_tx_length : 6305
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 22
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55362974
Intersect_end : 55369279
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MUCL1Gene_name : MUCL1;
LOEUF_bin : 9
GnomAD_pLI : 3.0923e-05
ExAC_pLI : 1.1481e-05
HI : .
TS : .
DDD_HI_percent : 99.98
ACMG : .
ExAC_cnvZ : 0.640018275728697
ExAC_delZ : 0.483210143093239
ExAC_dupZ : 0.461047335723869
ExAC_synZ : -0.732839355804729
ExAC_misZ : -1.43648013293992
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 118430
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : XM_047428272
Tx_version : 1
Tx_start : 54830680
Tx_end : 54858387
Exon_count : 5
Overlapped_tx_length : 27707
Overlapped_CDS_length : 273
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54830680
Intersect_end : 54858387
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C65Gene_name : OR6C65;
LOEUF_bin : 9
GnomAD_pLI : 1.7684e-05
ExAC_pLI : 1.0615e-03
HI : .
TS : .
DDD_HI_percent : 88.7
ACMG : .
ExAC_cnvZ : 0.544222897249937
ExAC_delZ : 0.839800576790351
ExAC_dupZ : 0.201658528984422
ExAC_synZ : -1.56110883411206
ExAC_misZ : -1.40405614964885
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 403282
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005518
Tx_version : 1
Tx_start : 55400528
Tx_end : 55401467
Exon_count : 1
Overlapped_tx_length : 939
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55400528
Intersect_end : 55401467
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C68Gene_name : OR6C68;
LOEUF_bin : 9
GnomAD_pLI : 1.3380e-02
ExAC_pLI : 1.2342e-04
HI : .
TS : .
DDD_HI_percent : 91.63
ACMG : .
ExAC_cnvZ : 0.206016897103506
ExAC_delZ : 0.47942415425357
ExAC_dupZ : -0.0723802142436496
ExAC_synZ : -1.62727222739858
ExAC_misZ : -2.34436994233472
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 403284
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005519
Tx_version : 2
Tx_start : 55492377
Tx_end : 55493316
Exon_count : 1
Overlapped_tx_length : 939
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55492377
Intersect_end : 55493316
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TSPAN19Gene_name : TSPAN19;
LOEUF_bin : 9
GnomAD_pLI : 1.9829e-12
ExAC_pLI : 2.6377e-09
HI : .
TS : .
DDD_HI_percent : 72.68
ACMG : .
ExAC_cnvZ : 0.404637612099548
ExAC_delZ : 0.0383670969185104
ExAC_dupZ : 0.471816252451988
ExAC_synZ : 0.146217353513628
ExAC_misZ : -1.21950768529035
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144448
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : 5'UTR-3'UTR
Tx : NM_001100917
Tx_version : 2
Tx_start : 85014316
Tx_end : 85036277
Exon_count : 9
Overlapped_tx_length : 21961
Overlapped_CDS_length : 747
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85014316
Intersect_end : 85036277
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NPFFGene_name : NPFF;
LOEUF_bin : 9
GnomAD_pLI : 3.6460e-05
ExAC_pLI : 2.5370e-04
HI : .
TS : .
DDD_HI_percent : 74.13
ACMG : .
ExAC_cnvZ : 0.991001828751079
ExAC_delZ : 0.531028154786202
ExAC_dupZ : 0.870708135019265
ExAC_synZ : 0.656151312514787
ExAC_misZ : 0.0881891190837327
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8620
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001320296
Tx_version : 2
Tx_start : 53506687
Tx_end : 53507484
Exon_count : 2
Overlapped_tx_length : 797
Overlapped_CDS_length : 351
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53506687
Intersect_end : 53507484
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C70Gene_name : OR6C70;
LOEUF_bin : 9
GnomAD_pLI : 4.9830e-07
ExAC_pLI : 1.4101e-05
HI : .
TS : .
DDD_HI_percent : 86.95
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.06698808761639
ExAC_misZ : -2.62308323308682
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 390327
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005499
Tx_version : 1
Tx_start : 55469199
Tx_end : 55470138
Exon_count : 1
Overlapped_tx_length : 939
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55469199
Intersect_end : 55470138
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:55459386-55474158
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ASCL4Gene_name : ASCL4;
LOEUF_bin : 9
GnomAD_pLI : 1.6311e-03
ExAC_pLI : 2.4741e-01
HI : .
TS : .
DDD_HI_percent : 79.76
ACMG : .
ExAC_cnvZ : 0.503969749065832
ExAC_delZ : 0.101140820700674
ExAC_dupZ : 0.496611817193642
ExAC_synZ : 1.09992846596385
ExAC_misZ : 1.49269528381158
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121549
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_203436
Tx_version : 3
Tx_start : 107774703
Tx_end : 107776644
Exon_count : 1
Overlapped_tx_length : 1941
Overlapped_CDS_length : 519
Overlapped_CDS_percent : 36
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107774703
Intersect_end : 107776644
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR6C4Gene_name : OR6C4;
LOEUF_bin : 9
GnomAD_pLI : 5.6330e-09
ExAC_pLI : 1.1024e-07
HI : .
TS : .
DDD_HI_percent : 73.47
ACMG : .
ExAC_cnvZ : 0.635435832448843
ExAC_delZ : 0.922710034537399
ExAC_dupZ : 0.295685103024938
ExAC_synZ : -2.221967126736
ExAC_misZ : -3.55986406808693
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 341418
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005494
Tx_version : 2
Tx_start : 55549601
Tx_end : 55555832
Exon_count : 2
Overlapped_tx_length : 6231
Overlapped_CDS_length : 930
Overlapped_CDS_percent : 20
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55549601
Intersect_end : 55555832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HRKGene_name : HRK;
LOEUF_bin : 9
GnomAD_pLI : 3.6033e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 44.52
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8739
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : NM_003806
Tx_version : 4
Tx_start : 116856143
Tx_end : 116881441
Exon_count : 2
Overlapped_tx_length : 25298
Overlapped_CDS_length : 276
Overlapped_CDS_percent : 67
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116856143
Intersect_end : 116881441
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR8S1Gene_name : OR8S1;
LOEUF_bin : 9
GnomAD_pLI : 1.4449e-06
ExAC_pLI : 3.0816e-06
HI : .
TS : .
DDD_HI_percent : 84.26
ACMG : .
ExAC_cnvZ : 0.627097471780243
ExAC_delZ : 0.198236434135173
ExAC_dupZ : 0.567599050301572
ExAC_synZ : -0.242653315729308
ExAC_misZ : -1.01807120838812
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 341568
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001390849
Tx_version : 1
Tx_start : 48525631
Tx_end : 48526570
Exon_count : 1
Overlapped_tx_length : 939
Overlapped_CDS_length : 939
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48525631
Intersect_end : 48526570
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OGFOD2Gene_name : OGFOD2;
LOEUF_bin : 9
GnomAD_pLI : 3.4370e-12
ExAC_pLI : 3.8051e-07
HI : .
TS : .
DDD_HI_percent : 66.94
ACMG : .
ExAC_cnvZ : -0.152101190639159
ExAC_delZ : 0.208233841472354
ExAC_dupZ : -0.33948214024003
ExAC_synZ : -0.829151704343638
ExAC_misZ : -1.29905784553756
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79676
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001304833
Tx_version : 2
Tx_start : 122975243
Tx_end : 122980042
Exon_count : 7
Overlapped_tx_length : 4799
Overlapped_CDS_length : 1053
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122975243
Intersect_end : 122980042
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf76Gene_name : C12orf76;
LOEUF_bin : 9
GnomAD_pLI : 9.8749e-07
ExAC_pLI : 1.0130e-04
HI : .
TS : .
DDD_HI_percent : 83.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.809314421126936
ExAC_misZ : 0.0436775309564617
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400073
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : 5'UTR-3'UTR
Tx : NM_001389625
Tx_version : 1
Tx_start : 110041176
Tx_end : 110048522
Exon_count : 2
Overlapped_tx_length : 7346
Overlapped_CDS_length : 219
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110041176
Intersect_end : 110048522
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SIRT4Gene_name : SIRT4;
LOEUF_bin : 9
GnomAD_pLI : 6.8625e-10
ExAC_pLI : 1.8068e-07
HI : .
TS : .
DDD_HI_percent : 49.14
ACMG : .
ExAC_cnvZ : -0.0544232847742176
ExAC_delZ : -0.848129232601671
ExAC_dupZ : 0.484754391995059
ExAC_synZ : -0.169777229805133
ExAC_misZ : 0.568495181793939
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23409
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23-q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001385733
Tx_version : 1
Tx_start : 120291779
Tx_end : 120313249
Exon_count : 4
Overlapped_tx_length : 21470
Overlapped_CDS_length : 945
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120291779
Intersect_end : 120313249
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR2AP1Gene_name : OR2AP1;
LOEUF_bin : 9
GnomAD_pLI : 2.9797e-05
ExAC_pLI : 2.9039e-03
HI : .
TS : .
DDD_HI_percent : 83.6
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.92439157321042
ExAC_misZ : -2.65039501455441
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121129
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001258285
Tx_version : 2
Tx_start : 55572467
Tx_end : 55575612
Exon_count : 2
Overlapped_tx_length : 3145
Overlapped_CDS_length : 930
Overlapped_CDS_percent : 77
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55572467
Intersect_end : 55575612
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:55556444-55607510; chr12:55562901-55579547
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CLLU1Gene_name : CLLU1;
LOEUF_bin : 9
GnomAD_pLI : 1.6736e-03
ExAC_pLI : 4.1368e-02
HI : .
TS : .
DDD_HI_percent : 95.02
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.12411321120035
ExAC_misZ : -2.09539772640903
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 574028
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_027932
Tx_version : 1
Tx_start : 92421530
Tx_end : 92431002
Exon_count : 3
Overlapped_tx_length : 9472
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92421530
Intersect_end : 92431002
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR9K2Gene_name : OR9K2;
LOEUF_bin : 9
GnomAD_pLI : 5.3659e-07
ExAC_pLI : 9.7525e-05
HI : .
TS : .
DDD_HI_percent : 69.96
ACMG : .
ExAC_cnvZ : 0.3518222892863
ExAC_delZ : 0.351163345666802
ExAC_dupZ : 0.257538597715124
ExAC_synZ : -1.03448391835436
ExAC_misZ : -2.15797918815158
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 441639
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_001005243
Tx_version : 2
Tx_start : 55126405
Tx_end : 55132750
Exon_count : 3
Overlapped_tx_length : 6345
Overlapped_CDS_length : 942
Overlapped_CDS_percent : 32
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55126405
Intersect_end : 55132750
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PLA2G1BGene_name : PLA2G1B;
LOEUF_bin : 9
GnomAD_pLI : 1.0057e-10
ExAC_pLI : 3.6489e-11
HI : .
TS : .
DDD_HI_percent : 42.04
ACMG : .
ExAC_cnvZ : 0.671124065959008
ExAC_delZ : 0.121518870907138
ExAC_dupZ : 0.918941163777411
ExAC_synZ : 0.249477294832961
ExAC_misZ : -0.47284530028039
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5319
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_000928
Tx_version : 3
Tx_start : 120322114
Tx_end : 120327779
Exon_count : 4
Overlapped_tx_length : 5665
Overlapped_CDS_length : 447
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120322114
Intersect_end : 120327779
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IQCDGene_name : IQCD;
LOEUF_bin : 9
GnomAD_pLI : 1.7712e-09
ExAC_pLI : 7.6642e-06
HI : .
TS : .
DDD_HI_percent : 88.74
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.132454763867369
ExAC_misZ : -0.166801845834783
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 115811
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : XM_047428258
Tx_version : 1
Tx_start : 113195445
Tx_end : 113221094
Exon_count : 5
Overlapped_tx_length : 25649
Overlapped_CDS_length : 1422
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113195445
Intersect_end : 113221094
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DNAH10OSGene_name : DNAH10OS;
LOEUF_bin : 9
GnomAD_pLI : 1.7857e-04
ExAC_pLI : 1.3366e-02
HI : .
TS : .
DDD_HI_percent : 99.64
ACMG : .
ExAC_cnvZ : 0.647964626337371
ExAC_delZ : 0.155295961190427
ExAC_dupZ : 0.61672637584191
ExAC_synZ : -0.347631109367678
ExAC_misZ : -0.810453657258457
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 642797
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_187476
Tx_version : 1
Tx_start : 123927054
Tx_end : 123934984
Exon_count : 2
Overlapped_tx_length : 7930
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123927054
Intersect_end : 123934984
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HIGD1CGene_name : HIGD1C;
LOEUF_bin : 9
GnomAD_pLI : 3.9609e-04
ExAC_pLI : 2.4200e-05
HI : .
TS : .
DDD_HI_percent : 59.5
ACMG : .
ExAC_cnvZ : 0.292303520980711
ExAC_delZ : -0.318988666297098
ExAC_dupZ : 0.617710851345721
ExAC_synZ : 0.705815276751839
ExAC_misZ : -0.4656593338213
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 613227
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_017019783
Tx_version : 3
Tx_start : 50931109
Tx_end : 50972592
Exon_count : 6
Overlapped_tx_length : 41483
Overlapped_CDS_length : 477
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50931109
Intersect_end : 50972592
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANKRD33Gene_name : ANKRD33;
LOEUF_bin : 9
GnomAD_pLI : 1.4957e-17
ExAC_pLI : 1.9618e-14
HI : .
TS : .
DDD_HI_percent : 73.52
ACMG : .
ExAC_cnvZ : -0.8210085612154
ExAC_delZ : 0.214808937812226
ExAC_dupZ : -1.15382181817627
ExAC_synZ : -0.783852575142604
ExAC_misZ : -0.472627160617977
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 341405
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_047428784
Tx_version : 1
Tx_start : 51888115
Tx_end : 51891727
Exon_count : 5
Overlapped_tx_length : 3612
Overlapped_CDS_length : 1416
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51888115
Intersect_end : 51891727
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HCAR3Gene_name : HCAR3;
LOEUF_bin : 9
GnomAD_pLI : 7.8636e-08
ExAC_pLI : 6.9312e-06
HI : .
TS : .
DDD_HI_percent : 83.51
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.757229752956602
ExAC_misZ : 2.12884889041024
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8843
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_006018
Tx_version : 3
Tx_start : 122714755
Tx_end : 122716811
Exon_count : 1
Overlapped_tx_length : 2056
Overlapped_CDS_length : 1164
Overlapped_CDS_percent : 94
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122714755
Intersect_end : 122716811
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:122702434-122717012; chr12:122705237-122718620
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf42Gene_name : C12orf42;
LOEUF_bin : 9
GnomAD_pLI : 2.7519e-10
ExAC_pLI : 2.2928e-07
HI : .
TS : .
DDD_HI_percent : 89.17
ACMG : .
ExAC_cnvZ : 0.740620211616851
ExAC_delZ : 0.294191047816684
ExAC_dupZ : 0.652686761217463
ExAC_synZ : -0.752679085934934
ExAC_misZ : -1.49759170133022
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 374470
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2-q23.3
Location2 : 5'UTR-3'UTR
Tx : XM_047428802
Tx_version : 1
Tx_start : 103301954
Tx_end : 103525246
Exon_count : 7
Overlapped_tx_length : 223292
Overlapped_CDS_length : 1140
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103301954
Intersect_end : 103525246
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02414Gene_name : LINC02414;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370085
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_146868
Tx_version : 1
Tx_start : 131645917
Tx_end : 131648121
Exon_count : 2
Overlapped_tx_length : 2204
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131645917
Intersect_end : 131648121
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:40122; dbVar; esv2658223; gnomAD-SV_v3_DE[...]B_loss_source : DDD:40122; dbVar; esv2658223; gnomAD-SV_v3_DEL_chr12_74698058
B_loss_coord : chr12:131629455-131652855; 12:131645301-131653247; chr12:131645455-131653155; 12:131645457-131653055; chr12:131645728-131653000
B_loss_AFmax : 0.2611
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ADGRD1-AS1Gene_name : ADGRD1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105755954
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_131950
Tx_version : 1
Tx_start : 130990625
Tx_end : 130993976
Exon_count : 3
Overlapped_tx_length : 3351
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130990625
Intersect_end : 130993976
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02350Gene_name : LINC02350;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370059
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_146291
Tx_version : 1
Tx_start : 126426145
Tx_end : 126434227
Exon_count : 3
Overlapped_tx_length : 8082
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126426145
Intersect_end : 126434227
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126376969-126454930; chr12:126421201-126510243
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ANP32DGene_name : ANP32D;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : 1.4794e-01
HI : .
TS : .
DDD_HI_percent : 94.2
ACMG : .
ExAC_cnvZ : 1.22097995991124
ExAC_delZ : 0.843952676253296
ExAC_dupZ : 1.00190796978912
ExAC_synZ : -2.02442608468347
ExAC_misZ : -2.11033204740966
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23519
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_012404
Tx_version : 3
Tx_start : 48472558
Tx_end : 48473622
Exon_count : 1
Overlapped_tx_length : 1064
Overlapped_CDS_length : 396
Overlapped_CDS_percent : 41
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48472558
Intersect_end : 48473622
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01779Gene_name : LINC01779;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107985190
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_186584
Tx_version : 1
Tx_start : 40223075
Tx_end : 40224903
Exon_count : 1
Overlapped_tx_length : 1828
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40223075
Intersect_end : 40224903
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORD133Gene_name : SNORD133;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 106633800
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_132753
Tx_version : 1
Tx_start : 50456570
Tx_end : 50456786
Exon_count : 1
Overlapped_tx_length : 216
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50456570
Intersect_end : 50456786
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT87PGene_name : KRT87P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 85349
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_146088
Tx_version : 1
Tx_start : 52250543
Tx_end : 52258508
Exon_count : 9
Overlapped_tx_length : 7965
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52250543
Intersect_end : 52258508
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3908Gene_name : MIR3908;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500909
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_037470
Tx_version : 1
Tx_start : 123536408
Tx_end : 123536534
Exon_count : 1
Overlapped_tx_length : 126
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123536408
Intersect_end : 123536534
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PCED1B-AS1Gene_name : PCED1B-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100233209
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_026544
Tx_version : 1
Tx_start : 47208419
Tx_end : 47216443
Exon_count : 3
Overlapped_tx_length : 8024
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47208419
Intersect_end : 47216443
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMDD1Gene_name : TMDD1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 112163659
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001386737
Tx_version : 1
Tx_start : 51813920
Tx_end : 51814925
Exon_count : 1
Overlapped_tx_length : 1005
Overlapped_CDS_length : 954
Overlapped_CDS_percent : 96
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51813920
Intersect_end : 51814925
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR9902-1Gene_name : MIR9902-1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113218484
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_162094
Tx_version : 1
Tx_start : 122695906
Tx_end : 122695999
Exon_count : 1
Overlapped_tx_length : 93
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122695906
Intersect_end : 122695999
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RNU4-2Gene_name : RNU4-2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26834
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_003137
Tx_version : 2
Tx_start : 120291762
Tx_end : 120291903
Exon_count : 1
Overlapped_tx_length : 141
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120291762
Intersect_end : 120291903
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LNCOGGene_name : LNCOG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369848
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_146531
Tx_version : 1
Tx_start : 76259882
Tx_end : 76305969
Exon_count : 4
Overlapped_tx_length : 46087
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76259882
Intersect_end : 76305969
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02457Gene_name : LINC02457;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984439
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_001749339
Tx_version : 3
Tx_start : 116515828
Tx_end : 116521914
Exon_count : 3
Overlapped_tx_length : 6086
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116515828
Intersect_end : 116521914
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDN-AS1Gene_name : DDN-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369758
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_147178
Tx_version : 1
Tx_start : 48998346
Tx_end : 49019240
Exon_count : 3
Overlapped_tx_length : 20894
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48998346
Intersect_end : 49019240
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MON2-AS1Gene_name : MON2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128385372
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_186172
Tx_version : 1
Tx_start : 62482348
Tx_end : 62484942
Exon_count : 2
Overlapped_tx_length : 2594
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62482348
Intersect_end : 62484942
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02440Gene_name : LINC02440;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370015
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_183608
Tx_version : 1
Tx_start : 118773030
Tx_end : 118774605
Exon_count : 3
Overlapped_tx_length : 1575
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118773030
Intersect_end : 118774605
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CABP1-DTGene_name : CABP1-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928300
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_183426
Tx_version : 1
Tx_start : 120629610
Tx_end : 120640522
Exon_count : 2
Overlapped_tx_length : 10912
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120629610
Intersect_end : 120640522
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02410Gene_name : LINC02410;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369920
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_135016
Tx_version : 1
Tx_start : 95803096
Tx_end : 95823314
Exon_count : 2
Overlapped_tx_length : 20218
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95803096
Intersect_end : 95823314
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR331Gene_name : MIR331;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 442903
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_029895
Tx_version : 1
Tx_start : 95308419
Tx_end : 95308513
Exon_count : 1
Overlapped_tx_length : 94
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95308419
Intersect_end : 95308513
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6074Gene_name : MIR6074;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102464827
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_106722
Tx_version : 1
Tx_start : 66023619
Tx_end : 66023726
Exon_count : 1
Overlapped_tx_length : 107
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66023619
Intersect_end : 66023726
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593; chr12:66023449-66026645
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR615Gene_name : MIR615;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693200
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_030753
Tx_version : 1
Tx_start : 54033949
Tx_end : 54034045
Exon_count : 1
Overlapped_tx_length : 96
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54033949
Intersect_end : 54034045
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR26A2Gene_name : MIR26A2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 407016
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_029847
Tx_version : 1
Tx_start : 57824608
Tx_end : 57824692
Exon_count : 1
Overlapped_tx_length : 84
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57824608
Intersect_end : 57824692
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02389Gene_name : LINC02389;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400046
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_033988
Tx_version : 1
Tx_start : 64883773
Tx_end : 64977522
Exon_count : 3
Overlapped_tx_length : 93749
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64883773
Intersect_end : 64977522
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC-AS2Gene_name : HOXC-AS2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100874364
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_047505
Tx_version : 1
Tx_start : 53995207
Tx_end : 53996785
Exon_count : 3
Overlapped_tx_length : 1578
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53995207
Intersect_end : 53996785
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SMUG1-AS1Gene_name : SMUG1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369776
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063321
Tx_version : 1
Tx_start : 54142601
Tx_end : 54152656
Exon_count : 2
Overlapped_tx_length : 10055
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54142601
Intersect_end : 54152656
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6757Gene_name : MIR6757;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466193
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_106815
Tx_version : 1
Tx_start : 53056943
Tx_end : 53057012
Exon_count : 1
Overlapped_tx_length : 69
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53056943
Intersect_end : 53057012
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CISTRGene_name : CISTR;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102216268
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_186107
Tx_version : 1
Tx_start : 53746336
Tx_end : 53757007
Exon_count : 4
Overlapped_tx_length : 10671
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53746336
Intersect_end : 53757007
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
THRILGene_name : THRIL;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102659353
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_110375
Tx_version : 1
Tx_start : 125025442
Tx_end : 125027423
Exon_count : 1
Overlapped_tx_length : 1981
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125025442
Intersect_end : 125027423
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR548ZGene_name : MIR548Z;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500856
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : NR_037515
Tx_version : 1
Tx_start : 64622508
Tx_end : 64622605
Exon_count : 1
Overlapped_tx_length : 97
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64622508
Intersect_end : 64622605
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PITPNM2-AS1Gene_name : PITPNM2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507091
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_038290
Tx_version : 1
Tx_start : 123081383
Tx_end : 123084744
Exon_count : 3
Overlapped_tx_length : 3361
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123081383
Intersect_end : 123084744
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT7-ASGene_name : KRT7-AS;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109729127
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_146274
Tx_version : 1
Tx_start : 52245042
Tx_end : 52247448
Exon_count : 2
Overlapped_tx_length : 2406
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52245042
Intersect_end : 52247448
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02347Gene_name : LINC02347;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100128554
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_130748
Tx_version : 1
Tx_start : 126442480
Tx_end : 126472785
Exon_count : 12
Overlapped_tx_length : 30305
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126442480
Intersect_end : 126472785
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126421201-126510243
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02444Gene_name : LINC02444;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928137
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : NR_110130
Tx_version : 1
Tx_start : 73159189
Tx_end : 73208317
Exon_count : 4
Overlapped_tx_length : 49128
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 73159189
Intersect_end : 73208317
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02424Gene_name : LINC02424;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369860
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_135021
Tx_version : 1
Tx_start : 78326679
Tx_end : 78359746
Exon_count : 2
Overlapped_tx_length : 33067
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 78326679
Intersect_end : 78359746
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:78277506-78376367
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf75-AS1Gene_name : C12orf75-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369954
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_131986
Tx_version : 1
Tx_start : 105304866
Tx_end : 105327017
Exon_count : 3
Overlapped_tx_length : 22151
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105304866
Intersect_end : 105327017
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:105298255-105330287
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CD63-AS1Gene_name : CD63-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369779
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : NR_183514
Tx_version : 1
Tx_start : 55729093
Tx_end : 55730852
Exon_count : 2
Overlapped_tx_length : 1759
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55729093
Intersect_end : 55730852
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CEP83-DTGene_name : CEP83-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144486
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_027035
Tx_version : 1
Tx_start : 94460002
Tx_end : 94462570
Exon_count : 1
Overlapped_tx_length : 2568
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94460002
Intersect_end : 94462570
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRIG3-DTGene_name : LRIG3-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369791
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_183518
Tx_version : 1
Tx_start : 58920703
Tx_end : 59130875
Exon_count : 6
Overlapped_tx_length : 210172
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58920703
Intersect_end : 59130875
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:59089723-59089722P_loss_coord : 12:59089723-59089722
P_loss_source : dbVar:nssv17976033
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02451Gene_name : LINC02451;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369738
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_135027
Tx_version : 1
Tx_start : 42646582
Tx_end : 42686701
Exon_count : 5
Overlapped_tx_length : 40119
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42646582
Intersect_end : 42686701
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02426Gene_name : LINC02426;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928449
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_110089
Tx_version : 1
Tx_start : 81953718
Tx_end : 81993133
Exon_count : 3
Overlapped_tx_length : 39415
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81953718
Intersect_end : 81993133
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01619Gene_name : LINC01619;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 256021
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_046160
Tx_version : 2
Tx_start : 91984975
Tx_end : 92142831
Exon_count : 6
Overlapped_tx_length : 157856
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91984975
Intersect_end : 92142831
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR10527Gene_name : MIR10527;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113218505
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : NR_162118
Tx_version : 1
Tx_start : 63823662
Tx_end : 63823727
Exon_count : 1
Overlapped_tx_length : 65
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63823662
Intersect_end : 63823727
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
IFNG-AS1Gene_name : IFNG-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100885789
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_104124
Tx_version : 2
Tx_start : 67989446
Tx_end : 68026337
Exon_count : 5
Overlapped_tx_length : 36891
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67989446
Intersect_end : 68026337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TUBA1B-AS1Gene_name : TUBA1B-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369760
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_183484
Tx_version : 1
Tx_start : 49131605
Tx_end : 49147863
Exon_count : 2
Overlapped_tx_length : 16258
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49131605
Intersect_end : 49147863
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FZD10-AS1Gene_name : FZD10-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440119
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_033834
Tx_version : 1
Tx_start : 130151592
Tx_end : 130161678
Exon_count : 4
Overlapped_tx_length : 10086
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130151592
Intersect_end : 130161678
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR8072Gene_name : MIR8072;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466877
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_107039
Tx_version : 1
Tx_start : 123364763
Tx_end : 123364843
Exon_count : 1
Overlapped_tx_length : 80
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123364763
Intersect_end : 123364843
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01465Gene_name : LINC01465;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 93.44
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283416
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_121682
Tx_version : 1
Tx_start : 62601750
Tx_end : 62603434
Exon_count : 1
Overlapped_tx_length : 1684
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62601750
Intersect_end : 62603434
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
H3-5Gene_name : H3-5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440093
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001013699
Tx_version : 3
Tx_start : 31791184
Tx_end : 31792298
Exon_count : 1
Overlapped_tx_length : 1114
Overlapped_CDS_length : 408
Overlapped_CDS_percent : 75
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31791184
Intersect_end : 31792298
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02874Gene_name : LINC02874;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283403
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_164130
Tx_version : 1
Tx_start : 52204822
Tx_end : 52213583
Exon_count : 5
Overlapped_tx_length : 8761
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52204822
Intersect_end : 52213583
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
C12orf42-AS1Gene_name : C12orf42-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929058
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_126333
Tx_version : 1
Tx_start : 103151841
Tx_end : 103168309
Exon_count : 7
Overlapped_tx_length : 16468
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103151841
Intersect_end : 103168309
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RACGAP1P1Gene_name : RACGAP1P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83956
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_026583
Tx_version : 1
Tx_start : 45062617
Tx_end : 45065411
Exon_count : 1
Overlapped_tx_length : 2794
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45062617
Intersect_end : 45065411
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6505Gene_name : MIR6505;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466657
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_106760
Tx_version : 1
Tx_start : 48132796
Tx_end : 48132867
Exon_count : 1
Overlapped_tx_length : 71
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48132796
Intersect_end : 48132867
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC13-ASGene_name : HOXC13-AS;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100874366
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_047507
Tx_version : 1
Tx_start : 53935327
Tx_end : 53939643
Exon_count : 3
Overlapped_tx_length : 4316
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53935327
Intersect_end : 53939643
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00939Gene_name : LINC00939;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400084
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_034132
Tx_version : 1
Tx_start : 125958683
Tx_end : 125983374
Exon_count : 6
Overlapped_tx_length : 24691
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125958683
Intersect_end : 125983374
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4699Gene_name : MIR4699;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616133
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_039848
Tx_version : 1
Tx_start : 81158387
Tx_end : 81158461
Exon_count : 1
Overlapped_tx_length : 74
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81158387
Intersect_end : 81158461
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02397Gene_name : LINC02397;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507616
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_144532
Tx_version : 1
Tx_start : 92466678
Tx_end : 92483947
Exon_count : 2
Overlapped_tx_length : 17269
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92466678
Intersect_end : 92483947
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02452Gene_name : LINC02452;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369924
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_945239
Tx_version : 3
Tx_start : 96161837
Tx_end : 96172480
Exon_count : 3
Overlapped_tx_length : 10643
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96161837
Intersect_end : 96172480
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMT1BGene_name : TMT1B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196410
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_152637
Tx_version : 3
Tx_start : 55681735
Tx_end : 55684611
Exon_count : 2
Overlapped_tx_length : 2876
Overlapped_CDS_length : 735
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55681735
Intersect_end : 55684611
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRRK2-DTGene_name : LRRK2-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984474
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_186757
Tx_version : 1
Tx_start : 40141765
Tx_end : 40223822
Exon_count : 9
Overlapped_tx_length : 82057
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40141765
Intersect_end : 40223822
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02418Gene_name : LINC02418;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100190940
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_024457
Tx_version : 2
Tx_start : 130033811
Tx_end : 130042342
Exon_count : 3
Overlapped_tx_length : 8531
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130033811
Intersect_end : 130042342
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TRHDE-AS1Gene_name : TRHDE-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283392
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : NR_026837
Tx_version : 1
Tx_start : 72253506
Tx_end : 72273509
Exon_count : 2
Overlapped_tx_length : 20003
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 72253506
Intersect_end : 72273509
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CLIP1-AS1Gene_name : CLIP1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507066
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_045382
Tx_version : 1
Tx_start : 122395541
Tx_end : 122399944
Exon_count : 3
Overlapped_tx_length : 4403
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122395541
Intersect_end : 122399944
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CCDC184Gene_name : CCDC184;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 40.69
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387856
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001013635
Tx_version : 4
Tx_start : 48183643
Tx_end : 48185926
Exon_count : 1
Overlapped_tx_length : 2283
Overlapped_CDS_length : 585
Overlapped_CDS_percent : 32
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48183643
Intersect_end : 48185926
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3913-2Gene_name : MIR3913-2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500868
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_037476
Tx_version : 1
Tx_start : 69584722
Tx_end : 69584822
Exon_count : 1
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69584722
Intersect_end : 69584822
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02422Gene_name : LINC02422;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369723
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_135029
Tx_version : 1
Tx_start : 31876968
Tx_end : 31887203
Exon_count : 2
Overlapped_tx_length : 10235
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31876968
Intersect_end : 31887203
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR148BGene_name : MIR148B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 442892
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_029894
Tx_version : 1
Tx_start : 54337215
Tx_end : 54337314
Exon_count : 1
Overlapped_tx_length : 99
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54337215
Intersect_end : 54337314
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NR4A1ASGene_name : NR4A1AS;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 115409980
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_170321
Tx_version : 1
Tx_start : 52058749
Tx_end : 52059500
Exon_count : 2
Overlapped_tx_length : 751
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52058749
Intersect_end : 52059500
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MAPKAPK5-AS1Gene_name : MAPKAPK5-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51275
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : NR_015404
Tx_version : 2
Tx_start : 111839766
Tx_end : 111843005
Exon_count : 2
Overlapped_tx_length : 3239
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111839766
Intersect_end : 111843005
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR617Gene_name : MIR617;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693202
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_030348
Tx_version : 1
Tx_start : 80832532
Tx_end : 80832629
Exon_count : 1
Overlapped_tx_length : 97
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80832532
Intersect_end : 80832629
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1178Gene_name : MIR1178;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302274
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_031589
Tx_version : 1
Tx_start : 119713633
Tx_end : 119713724
Exon_count : 1
Overlapped_tx_length : 91
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119713633
Intersect_end : 119713724
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02396Gene_name : LINC02396;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283332
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_026948
Tx_version : 1
Tx_start : 49908881
Tx_end : 49911863
Exon_count : 3
Overlapped_tx_length : 2982
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49908881
Intersect_end : 49911863
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02395Gene_name : LINC02395;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927292
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_110048
Tx_version : 1
Tx_start : 49911952
Tx_end : 49926339
Exon_count : 6
Overlapped_tx_length : 14387
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49911952
Intersect_end : 49926339
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HNF1A-AS1Gene_name : HNF1A-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283460
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_024345
Tx_version : 1
Tx_start : 120969837
Tx_end : 120972292
Exon_count : 1
Overlapped_tx_length : 2455
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120969837
Intersect_end : 120972292
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6861Gene_name : MIR6861;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465519
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_106921
Tx_version : 1
Tx_start : 112163257
Tx_end : 112163321
Exon_count : 1
Overlapped_tx_length : 64
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112163257
Intersect_end : 112163321
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DENND5B-AS1Gene_name : DENND5B-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100874249
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_046909
Tx_version : 1
Tx_start : 31589922
Tx_end : 31615351
Exon_count : 3
Overlapped_tx_length : 25429
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31589922
Intersect_end : 31615351
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3059Gene_name : MIR3059;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113839519
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : NR_162123
Tx_version : 1
Tx_start : 86745067
Tx_end : 86745149
Exon_count : 1
Overlapped_tx_length : 82
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 86745067
Intersect_end : 86745149
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02412Gene_name : LINC02412;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102724933
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_120492
Tx_version : 1
Tx_start : 93174365
Tx_end : 93181832
Exon_count : 3
Overlapped_tx_length : 7467
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93174365
Intersect_end : 93181832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02456Gene_name : LINC02456;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369942
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063427
Tx_version : 1
Tx_start : 102279573
Tx_end : 102711995
Exon_count : 13
Overlapped_tx_length : 432422
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102279573
Intersect_end : 102711995
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:102417491-102481839; 12:102419490-102480381P_loss_coord : 12:102417491-102481839; 12:102419490-102480381
P_loss_source : dbVar:nssv17975160; morbid:IGF1
P_loss_phen : Insulin-like growth factor I deficiency, 608747 (3) AR
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC26A10PGene_name : SLC26A10P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 65012
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_166678
Tx_version : 1
Tx_start : 57619526
Tx_end : 57626151
Exon_count : 14
Overlapped_tx_length : 6625
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57619526
Intersect_end : 57626151
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
EEF1AKMT3Gene_name : EEF1AKMT3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25895
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_015433
Tx_version : 3
Tx_start : 57772613
Tx_end : 57782541
Exon_count : 3
Overlapped_tx_length : 9928
Overlapped_CDS_length : 681
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57772613
Intersect_end : 57782541
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR5BS1PGene_name : OR5BS1P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 390313
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001396061
Tx_version : 1
Tx_start : 48559881
Tx_end : 48562956
Exon_count : 2
Overlapped_tx_length : 3075
Overlapped_CDS_length : 936
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48559881
Intersect_end : 48562956
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02411Gene_name : LINC02411;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927637
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_120451
Tx_version : 1
Tx_start : 127631268
Tx_end : 127636467
Exon_count : 4
Overlapped_tx_length : 5199
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127631268
Intersect_end : 127636467
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3922Gene_name : MIR3922;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500843
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_037487
Tx_version : 1
Tx_start : 104591632
Tx_end : 104591716
Exon_count : 1
Overlapped_tx_length : 84
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104591632
Intersect_end : 104591716
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02403Gene_name : LINC02403;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369785
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_135022
Tx_version : 1
Tx_start : 58087891
Tx_end : 58093362
Exon_count : 4
Overlapped_tx_length : 5471
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58087891
Intersect_end : 58093362
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01498Gene_name : LINC01498;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102723562
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_120483
Tx_version : 1
Tx_start : 108459424
Tx_end : 108473689
Exon_count : 4
Overlapped_tx_length : 14265
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108459424
Intersect_end : 108473689
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GOLGA2P5Gene_name : GOLGA2P5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55592
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_036632
Tx_version : 1
Tx_start : 100156390
Tx_end : 100173343
Exon_count : 10
Overlapped_tx_length : 16953
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100156390
Intersect_end : 100173343
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:100151299-100174084; chr12:100151576-100173964
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CRADD-AS1Gene_name : CRADD-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928731
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_110092
Tx_version : 1
Tx_start : 93707790
Tx_end : 93737823
Exon_count : 3
Overlapped_tx_length : 30033
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93707790
Intersect_end : 93737823
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3685Gene_name : MIR3685;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500802
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_037456
Tx_version : 1
Tx_start : 95309922
Tx_end : 95309984
Exon_count : 1
Overlapped_tx_length : 62
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95309922
Intersect_end : 95309984
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4304Gene_name : MIR4304;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100422931
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_036187
Tx_version : 1
Tx_start : 123010666
Tx_end : 123010728
Exon_count : 1
Overlapped_tx_length : 62
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123010666
Intersect_end : 123010728
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SINHCAFGene_name : SINHCAF;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 58516
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001135811
Tx_version : 2
Tx_start : 31280583
Tx_end : 31326150
Exon_count : 7
Overlapped_tx_length : 45567
Overlapped_CDS_length : 666
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31280583
Intersect_end : 31326150
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
REDIC1Gene_name : REDIC1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283461
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001031748
Tx_version : 4
Tx_start : 39626182
Tx_end : 39721914
Exon_count : 13
Overlapped_tx_length : 95732
Overlapped_CDS_length : 1959
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39626182
Intersect_end : 39721914
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RLIG1Gene_name : RLIG1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 91298
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : 5'UTR-3'UTR
Tx : NM_001009894
Tx_version : 3
Tx_start : 88035535
Tx_end : 88050160
Exon_count : 7
Overlapped_tx_length : 14625
Overlapped_CDS_length : 978
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88035535
Intersect_end : 88050160
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
19P_snvindel_nb : 19
P_snvindel_phen : Abnormal_facial_shape; Bardet-Biedl_syndrome_14; CEP290-Related_Disorders; Familial_aplasia_of_the_vermis; Global_developmental_delay; Hypotonia; Joubert_syndrome_5; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Micrognathia; Nephronophthisis; Retinal_dystrophy; Rod-cone_dystrophy; Senior-Loken_syndrome_6
dbVarB_loss_source : dbVar
B_loss_coord : chr12:88027812-88118905
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00173Gene_name : LINC00173;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100287569
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : NR_027346
Tx_version : 1
Tx_start : 116533434
Tx_end : 116536513
Exon_count : 3
Overlapped_tx_length : 3079
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116533434
Intersect_end : 116536513
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4497Gene_name : MIR4497;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616454
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_039718
Tx_version : 1
Tx_start : 109833347
Tx_end : 109833436
Exon_count : 1
Overlapped_tx_length : 89
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109833347
Intersect_end : 109833436
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM198BGene_name : TMEM198B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440104
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : NR_036476
Tx_version : 1
Tx_start : 55829607
Tx_end : 55836246
Exon_count : 5
Overlapped_tx_length : 6639
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55829607
Intersect_end : 55836246
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02376Gene_name : LINC02376;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370065
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_146537
Tx_version : 1
Tx_start : 127274270
Tx_end : 127284283
Exon_count : 4
Overlapped_tx_length : 10013
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127274270
Intersect_end : 127284283
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OR7E47PGene_name : OR7E47P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26628
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_120439
Tx_version : 1
Tx_start : 52084745
Tx_end : 52108319
Exon_count : 2
Overlapped_tx_length : 23574
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52084745
Intersect_end : 52108319
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC03056Gene_name : LINC03056;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 124902951
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_007063345
Tx_version : 1
Tx_start : 63290130
Tx_end : 63373753
Exon_count : 2
Overlapped_tx_length : 83623
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63290130
Intersect_end : 63373753
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02415Gene_name : LINC02415;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107161159
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_135045
Tx_version : 1
Tx_start : 131296112
Tx_end : 131297972
Exon_count : 2
Overlapped_tx_length : 1860
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131296112
Intersect_end : 131297972
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; dbVar; dgv29e203
B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210
B_loss_AFmax : 0.0120
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LLPH-DTGene_name : LLPH-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 103625681
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_125724
Tx_version : 1
Tx_start : 66130750
Tx_end : 66134449
Exon_count : 2
Overlapped_tx_length : 3699
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66130750
Intersect_end : 66134449
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:66130674-66161690
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIRLET7IHGGene_name : MIRLET7IHG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766144
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_186001
Tx_version : 1
Tx_start : 62602742
Tx_end : 62622214
Exon_count : 2
Overlapped_tx_length : 19472
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62602742
Intersect_end : 62622214
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR196A2Gene_name : MIR196A2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 406973
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_029617
Tx_version : 1
Tx_start : 53991737
Tx_end : 53991847
Exon_count : 1
Overlapped_tx_length : 110
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53991737
Intersect_end : 53991847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA53Gene_name : SNORA53;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 677832
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_003015
Tx_version : 1
Tx_start : 98599634
Tx_end : 98599884
Exon_count : 1
Overlapped_tx_length : 250
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98599634
Intersect_end : 98599884
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPRING1Gene_name : SPRING1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79794
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : 5'UTR-3'UTR
Tx : XM_024449189
Tx_version : 2
Tx_start : 116710170
Tx_end : 116738069
Exon_count : 5
Overlapped_tx_length : 27899
Overlapped_CDS_length : 621
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116710170
Intersect_end : 116738069
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00592Gene_name : LINC00592;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283404
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_027358
Tx_version : 2
Tx_start : 52210929
Tx_end : 52223880
Exon_count : 5
Overlapped_tx_length : 12951
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52210929
Intersect_end : 52223880
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02388Gene_name : LINC02388;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927653
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_120452
Tx_version : 1
Tx_start : 58565958
Tx_end : 58781716
Exon_count : 8
Overlapped_tx_length : 215758
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58565958
Intersect_end : 58781716
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02354Gene_name : LINC02354;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984503
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063292
Tx_version : 1
Tx_start : 47829156
Tx_end : 47840108
Exon_count : 3
Overlapped_tx_length : 10952
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47829156
Intersect_end : 47840108
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPFIA2-AS1Gene_name : PPFIA2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102724663
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_120491
Tx_version : 1
Tx_start : 81279188
Tx_end : 81312422
Exon_count : 6
Overlapped_tx_length : 33234
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81279188
Intersect_end : 81312422
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02425Gene_name : LINC02425;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369810
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_146530
Tx_version : 1
Tx_start : 66027724
Tx_end : 66031066
Exon_count : 3
Overlapped_tx_length : 3342
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66027724
Intersect_end : 66031066
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6759Gene_name : MIR6759;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466729
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_106817
Tx_version : 1
Tx_start : 57748617
Tx_end : 57748682
Exon_count : 1
Overlapped_tx_length : 65
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57748617
Intersect_end : 57748682
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PYM1Gene_name : PYM1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84305
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : NM_032345
Tx_version : 3
Tx_start : 55901412
Tx_end : 55927894
Exon_count : 3
Overlapped_tx_length : 26482
Overlapped_CDS_length : 615
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55901412
Intersect_end : 55927894
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR548CGene_name : MIR548C;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693129
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : NR_030347
Tx_version : 1
Tx_start : 64622508
Tx_end : 64622605
Exon_count : 1
Overlapped_tx_length : 97
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64622508
Intersect_end : 64622605
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ETFBKMTGene_name : ETFBKMT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 254013
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001135864
Tx_version : 2
Tx_start : 31647159
Tx_end : 31673114
Exon_count : 4
Overlapped_tx_length : 25955
Overlapped_CDS_length : 789
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31647159
Intersect_end : 31673114
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPAP3-DTGene_name : RPAP3-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369748
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_183480
Tx_version : 1
Tx_start : 47706087
Tx_end : 47732351
Exon_count : 4
Overlapped_tx_length : 26264
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47706087
Intersect_end : 47732351
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02402Gene_name : LINC02402;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927058
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_110042
Tx_version : 1
Tx_start : 42615502
Tx_end : 42646498
Exon_count : 6
Overlapped_tx_length : 30996
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42615502
Intersect_end : 42646498
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RXYLT1-AS1Gene_name : RXYLT1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 104169670
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : NR_126167
Tx_version : 1
Tx_start : 63808844
Tx_end : 63822156
Exon_count : 4
Overlapped_tx_length : 13312
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63808844
Intersect_end : 63822156
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SOCS2-AS1Gene_name : SOCS2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144481
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_038263
Tx_version : 1
Tx_start : 93565627
Tx_end : 93571398
Exon_count : 4
Overlapped_tx_length : 5771
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93565627
Intersect_end : 93571398
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02420Gene_name : LINC02420;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102724433
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_146500
Tx_version : 1
Tx_start : 67440997
Tx_end : 67442559
Exon_count : 2
Overlapped_tx_length : 1562
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67440997
Intersect_end : 67442559
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DBX2-AS1Gene_name : DBX2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766145
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_186005
Tx_version : 1
Tx_start : 45050989
Tx_end : 45103107
Exon_count : 2
Overlapped_tx_length : 52118
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45050989
Intersect_end : 45103107
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02369Gene_name : LINC02369;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100996679
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_104647
Tx_version : 1
Tx_start : 128086981
Tx_end : 128118141
Exon_count : 5
Overlapped_tx_length : 31160
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128086981
Intersect_end : 128118141
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4472-2Gene_name : MIR4472-2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616309
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : NR_039683
Tx_version : 1
Tx_start : 116428251
Tx_end : 116428318
Exon_count : 1
Overlapped_tx_length : 67
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116428251
Intersect_end : 116428318
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:116395173-116434665
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NRAVGene_name : NRAV;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506668
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_038854
Tx_version : 1
Tx_start : 120490337
Tx_end : 120495946
Exon_count : 2
Overlapped_tx_length : 5609
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120490337
Intersect_end : 120495946
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00934Gene_name : LINC00934;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144742
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_024246
Tx_version : 2
Tx_start : 119283824
Tx_end : 119303380
Exon_count : 4
Overlapped_tx_length : 19556
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119283824
Intersect_end : 119303380
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RAB35-AS1Gene_name : RAB35-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 127138862
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_182302
Tx_version : 1
Tx_start : 120116906
Tx_end : 120119003
Exon_count : 1
Overlapped_tx_length : 2097
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120116906
Intersect_end : 120119003
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02453Gene_name : LINC02453;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 643770
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_038383
Tx_version : 1
Tx_start : 98485543
Tx_end : 98503855
Exon_count : 4
Overlapped_tx_length : 18312
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98485543
Intersect_end : 98503855
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02409Gene_name : LINC02409;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369929
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_183610
Tx_version : 1
Tx_start : 97262163
Tx_end : 97275324
Exon_count : 6
Overlapped_tx_length : 13161
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97262163
Intersect_end : 97275324
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02471Gene_name : LINC02471;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369734
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_146526
Tx_version : 1
Tx_start : 40156238
Tx_end : 40167847
Exon_count : 2
Overlapped_tx_length : 11609
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40156238
Intersect_end : 40167847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02963Gene_name : LINC02963;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 123706542
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : NR_185896
Tx_version : 1
Tx_start : 34191036
Tx_end : 34219211
Exon_count : 5
Overlapped_tx_length : 28175
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 34191036
Intersect_end : 34219211
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
esv2761043B_loss_source : esv2761043
B_loss_coord : 12:33141565-34701563
B_loss_AFmax : 0.0400
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA2CGene_name : SNORA2C;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 677815
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_002968
Tx_version : 1
Tx_start : 48654381
Tx_end : 48654518
Exon_count : 1
Overlapped_tx_length : 137
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48654381
Intersect_end : 48654518
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CFAP73Gene_name : CFAP73;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387885
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : 5'UTR-3'UTR
Tx : XM_011538327
Tx_version : 3
Tx_start : 113149723
Tx_end : 113158524
Exon_count : 7
Overlapped_tx_length : 8801
Overlapped_CDS_length : 966
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113149723
Intersect_end : 113158524
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TAMALIN-AS1Gene_name : TAMALIN-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 692159
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_146770
Tx_version : 1
Tx_start : 52006249
Tx_end : 52007655
Exon_count : 1
Overlapped_tx_length : 1406
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52006249
Intersect_end : 52007655
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC-AS1Gene_name : HOXC-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100874363
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_047504
Tx_version : 1
Tx_start : 53999021
Tx_end : 54000010
Exon_count : 2
Overlapped_tx_length : 989
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53999021
Intersect_end : 54000010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02400Gene_name : LINC02400;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927038
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_135040
Tx_version : 1
Tx_start : 41764188
Tx_end : 41765581
Exon_count : 3
Overlapped_tx_length : 1393
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41764188
Intersect_end : 41765581
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:41756573-41765728
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CLLU1-AS1Gene_name : CLLU1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 574016
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_144319
Tx_version : 2
Tx_start : 92420085
Tx_end : 92432999
Exon_count : 3
Overlapped_tx_length : 12914
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92420085
Intersect_end : 92432999
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02156Gene_name : LINC02156;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 111082992
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_149087
Tx_version : 1
Tx_start : 47415007
Tx_end : 47420179
Exon_count : 2
Overlapped_tx_length : 5172
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47415007
Intersect_end : 47420179
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02825Gene_name : LINC02825;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283435
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_147498
Tx_version : 1
Tx_start : 126400791
Tx_end : 126449327
Exon_count : 4
Overlapped_tx_length : 48536
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126400791
Intersect_end : 126449327
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126376969-126454930
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1252Gene_name : MIR1252;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302136
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_031700
Tx_version : 1
Tx_start : 79419256
Tx_end : 79419321
Exon_count : 1
Overlapped_tx_length : 65
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79419256
Intersect_end : 79419321
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR619Gene_name : MIR619;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693204
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_030350
Tx_version : 1
Tx_start : 108836907
Tx_end : 108837006
Exon_count : 1
Overlapped_tx_length : 99
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108836907
Intersect_end : 108837006
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4698Gene_name : MIR4698;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616486
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_039847
Tx_version : 1
Tx_start : 47187811
Tx_end : 47187891
Exon_count : 1
Overlapped_tx_length : 80
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47187811
Intersect_end : 47187891
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BLTP3B-DTGene_name : BLTP3B-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766146
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_186018
Tx_version : 1
Tx_start : 100143054
Tx_end : 100144671
Exon_count : 2
Overlapped_tx_length : 1617
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100143054
Intersect_end : 100144671
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00615Gene_name : LINC00615;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 439916
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_038868
Tx_version : 1
Tx_start : 90918022
Tx_end : 90948669
Exon_count : 5
Overlapped_tx_length : 30647
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90918022
Intersect_end : 90948669
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR5700Gene_name : MIR5700;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100847031
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_049885
Tx_version : 1
Tx_start : 94561788
Tx_end : 94561859
Exon_count : 1
Overlapped_tx_length : 71
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94561788
Intersect_end : 94561859
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR9898Gene_name : MIR9898;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113218482
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_162090
Tx_version : 1
Tx_start : 52898888
Tx_end : 52898984
Exon_count : 1
Overlapped_tx_length : 96
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52898888
Intersect_end : 52898984
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02399Gene_name : LINC02399;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369891
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_135019
Tx_version : 1
Tx_start : 89947692
Tx_end : 89949726
Exon_count : 3
Overlapped_tx_length : 2034
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89947692
Intersect_end : 89949726
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02461Gene_name : LINC02461;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369740
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_146866
Tx_version : 1
Tx_start : 43155314
Tx_end : 43163110
Exon_count : 4
Overlapped_tx_length : 7796
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 43155314
Intersect_end : 43163110
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02448Gene_name : LINC02448;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369792
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_945012
Tx_version : 3
Tx_start : 59520999
Tx_end : 59524152
Exon_count : 3
Overlapped_tx_length : 3153
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 59520999
Intersect_end : 59524152
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:59445875-60579362
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMT1AGene_name : TMT1A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25840
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_014033
Tx_version : 4
Tx_start : 50925014
Tx_end : 50932508
Exon_count : 2
Overlapped_tx_length : 7494
Overlapped_CDS_length : 735
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50925014
Intersect_end : 50932508
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02359Gene_name : LINC02359;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927464
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_186740
Tx_version : 1
Tx_start : 126095963
Tx_end : 126176807
Exon_count : 10
Overlapped_tx_length : 80844
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126095963
Intersect_end : 126176807
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6760Gene_name : MIR6760;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465455
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : NR_106818
Tx_version : 1
Tx_start : 111304141
Tx_end : 111304209
Exon_count : 1
Overlapped_tx_length : 68
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111304141
Intersect_end : 111304209
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC9A7P1Gene_name : SLC9A7P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121456
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_033801
Tx_version : 1
Tx_start : 98453839
Tx_end : 98457145
Exon_count : 1
Overlapped_tx_length : 3306
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98453839
Intersect_end : 98457145
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORD59AGene_name : SNORD59A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26789
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_002737
Tx_version : 1
Tx_start : 56645026
Tx_end : 56645101
Exon_count : 1
Overlapped_tx_length : 75
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56645026
Intersect_end : 56645101
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02404Gene_name : LINC02404;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369900
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_945201
Tx_version : 2
Tx_start : 91875302
Tx_end : 91880667
Exon_count : 3
Overlapped_tx_length : 5365
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91875302
Intersect_end : 91880667
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
AQP5-AS1Gene_name : AQP5-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927318
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_110591
Tx_version : 1
Tx_start : 49951511
Tx_end : 49962783
Exon_count : 3
Overlapped_tx_length : 11272
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49951511
Intersect_end : 49962783
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:49954146-49955618P_loss_coord : 12:49954146-49955618
P_loss_source : dbVar:nssv17172242
P_loss_phen : .
P_loss_hpo : .
15P_snvindel_nb : 15
P_snvindel_phen : Diabetes_insipidus,_nephrogenic,_autosomal; Nephrogenic_diabetes_insipidus; Palmoplantar_keratoderma,_Bothnian_type
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01486Gene_name : LINC01486;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928138
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_120462
Tx_version : 1
Tx_start : 109354186
Tx_end : 109359488
Exon_count : 3
Overlapped_tx_length : 5302
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109354186
Intersect_end : 109359488
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KICS2Gene_name : KICS2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144577
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : 5'UTR-3'UTR
Tx : NM_001300940
Tx_version : 2
Tx_start : 64186315
Tx_end : 64222296
Exon_count : 4
Overlapped_tx_length : 35981
Overlapped_CDS_length : 1407
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64186315
Intersect_end : 64222296
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SZRD1P1Gene_name : SZRD1P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100130075
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_073494
Tx_version : 1
Tx_start : 68804436
Tx_end : 68805494
Exon_count : 1
Overlapped_tx_length : 1058
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68804436
Intersect_end : 68805494
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TAMALINGene_name : TAMALIN;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160622
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_181711
Tx_version : 4
Tx_start : 52006945
Tx_end : 52015889
Exon_count : 8
Overlapped_tx_length : 8944
Overlapped_CDS_length : 1188
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52006945
Intersect_end : 52015889
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR7844Gene_name : MIR7844;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465834
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_106998
Tx_version : 1
Tx_start : 94571230
Tx_end : 94571352
Exon_count : 1
Overlapped_tx_length : 122
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94571230
Intersect_end : 94571352
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LRP1-ASGene_name : LRP1-AS;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105751187
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_131938
Tx_version : 2
Tx_start : 57144619
Tx_end : 57147619
Exon_count : 2
Overlapped_tx_length : 3000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57144619
Intersect_end : 57147619
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3913-1Gene_name : MIR3913-1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500903
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_037475
Tx_version : 1
Tx_start : 69584721
Tx_end : 69584823
Exon_count : 1
Overlapped_tx_length : 102
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69584721
Intersect_end : 69584823
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PCBP2-OT1Gene_name : PCBP2-OT1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102157401
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_109828
Tx_version : 1
Tx_start : 53464467
Tx_end : 53465057
Exon_count : 1
Overlapped_tx_length : 590
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53464467
Intersect_end : 53465057
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SCAT2Gene_name : SCAT2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 112935960
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_157844
Tx_version : 1
Tx_start : 54262614
Tx_end : 54279063
Exon_count : 2
Overlapped_tx_length : 16449
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54262614
Intersect_end : 54279063
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6761Gene_name : MIR6761;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465456
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : NR_106819
Tx_version : 1
Tx_start : 111799833
Tx_end : 111799905
Exon_count : 1
Overlapped_tx_length : 72
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111799833
Intersect_end : 111799905
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CPNE8-AS1Gene_name : CPNE8-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984504
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063275
Tx_version : 1
Tx_start : 38905711
Tx_end : 38909592
Exon_count : 2
Overlapped_tx_length : 3881
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 38905711
Intersect_end : 38909592
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
R3HDM2-DTGene_name : R3HDM2-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766140
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_185976
Tx_version : 1
Tx_start : 57431115
Tx_end : 57433935
Exon_count : 2
Overlapped_tx_length : 2820
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57431115
Intersect_end : 57433935
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR618Gene_name : MIR618;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693203
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_030349
Tx_version : 1
Tx_start : 80935735
Tx_end : 80935833
Exon_count : 1
Overlapped_tx_length : 98
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80935735
Intersect_end : 80935833
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BICD1-AS1Gene_name : BICD1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766143
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_185992
Tx_version : 1
Tx_start : 32104116
Tx_end : 32107462
Exon_count : 3
Overlapped_tx_length : 3346
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32104116
Intersect_end : 32107462
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BCDIN3D-AS1Gene_name : BCDIN3D-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100286844
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_027499
Tx_version : 1
Tx_start : 49828542
Tx_end : 49841154
Exon_count : 3
Overlapped_tx_length : 12612
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49828542
Intersect_end : 49841154
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPP1R12A-AS1Gene_name : PPP1R12A-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369865
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_146533
Tx_version : 1
Tx_start : 79935280
Tx_end : 79941395
Exon_count : 3
Overlapped_tx_length : 6115
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79935280
Intersect_end : 79941395
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02454Gene_name : LINC02454;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369807
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_146529
Tx_version : 1
Tx_start : 65602868
Tx_end : 65612987
Exon_count : 3
Overlapped_tx_length : 10119
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65602868
Intersect_end : 65612987
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MSRB3-AS1Gene_name : MSRB3-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507065
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_120431
Tx_version : 1
Tx_start : 65466816
Tx_end : 65642372
Exon_count : 4
Overlapped_tx_length : 175556
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65466816
Intersect_end : 65642372
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02391Gene_name : LINC02391;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101930023
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063403
Tx_version : 1
Tx_start : 92259262
Tx_end : 92363832
Exon_count : 7
Overlapped_tx_length : 104570
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92259262
Intersect_end : 92363832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP5F1BGene_name : ATP5F1B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 506
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001686
Tx_version : 4
Tx_start : 56638174
Tx_end : 56645984
Exon_count : 10
Overlapped_tx_length : 7810
Overlapped_CDS_length : 1590
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56638174
Intersect_end : 56645984
102910; OMIM_ID : 102910;
OMIM_phenotype : ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, 620085 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Hypermetabolism_due_to_Defect_in_Mitochondrial_Coupling; Hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation_2
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RFLNAGene_name : RFLNA;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144347
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001365156
Tx_version : 1
Tx_start : 124295092
Tx_end : 124316024
Exon_count : 3
Overlapped_tx_length : 20932
Overlapped_CDS_length : 651
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124295092
Intersect_end : 124316024
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TESC-AS1Gene_name : TESC-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928244
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : NR_120464
Tx_version : 1
Tx_start : 117099466
Tx_end : 117141489
Exon_count : 3
Overlapped_tx_length : 42023
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117099466
Intersect_end : 117141489
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PXN-AS1Gene_name : PXN-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506649
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_038924
Tx_version : 1
Tx_start : 120201290
Tx_end : 120212828
Exon_count : 4
Overlapped_tx_length : 11538
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120201290
Intersect_end : 120212828
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP23Gene_name : ATP23;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 91419
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : NM_033276
Tx_version : 4
Tx_start : 57941566
Tx_end : 57959148
Exon_count : 6
Overlapped_tx_length : 17582
Overlapped_CDS_length : 741
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57941566
Intersect_end : 57959148
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC38A4-AS1Gene_name : SLC38A4-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100288798
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_125377
Tx_version : 1
Tx_start : 46383675
Tx_end : 46652579
Exon_count : 4
Overlapped_tx_length : 268904
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46383675
Intersect_end : 46652579
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MKRN9PGene_name : MKRN9P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400058
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : NR_033410
Tx_version : 1
Tx_start : 87782884
Tx_end : 87784711
Exon_count : 1
Overlapped_tx_length : 1827
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87782884
Intersect_end : 87784711
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:87669425-87863288
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMPO-AS1Gene_name : TMPO-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100128191
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_027157
Tx_version : 1
Tx_start : 98512972
Tx_end : 98516226
Exon_count : 2
Overlapped_tx_length : 3254
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98512972
Intersect_end : 98516226
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GIHCGGene_name : GIHCG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506844
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_038269
Tx_version : 1
Tx_start : 57931448
Tx_end : 57936164
Exon_count : 3
Overlapped_tx_length : 4716
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57931448
Intersect_end : 57936164
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1293Gene_name : MIR1293;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302220
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_031625
Tx_version : 1
Tx_start : 50234141
Tx_end : 50234212
Exon_count : 1
Overlapped_tx_length : 71
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50234141
Intersect_end : 50234212
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRANCRGene_name : PRANCR;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928062
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_120460
Tx_version : 1
Tx_start : 70222189
Tx_end : 70243360
Exon_count : 5
Overlapped_tx_length : 21171
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70222189
Intersect_end : 70243360
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02458Gene_name : LINC02458;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 728084
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_038385
Tx_version : 1
Tx_start : 89011125
Tx_end : 89019692
Exon_count : 3
Overlapped_tx_length : 8567
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89011125
Intersect_end : 89019692
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOTAIRGene_name : HOTAIR;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100124700
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_047517
Tx_version : 2
Tx_start : 53962311
Tx_end : 53974954
Exon_count : 6
Overlapped_tx_length : 12643
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53962311
Intersect_end : 53974954
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00938Gene_name : LINC00938;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400027
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_028408
Tx_version : 1
Tx_start : 45725719
Tx_end : 45727921
Exon_count : 1
Overlapped_tx_length : 2202
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45725719
Intersect_end : 45727921
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02406Gene_name : LINC02406;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369730
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_183477
Tx_version : 1
Tx_start : 39087710
Tx_end : 39145470
Exon_count : 3
Overlapped_tx_length : 57760
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39087710
Intersect_end : 39145470
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01479Gene_name : LINC01479;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927922
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_120456
Tx_version : 1
Tx_start : 67929234
Tx_end : 67970017
Exon_count : 3
Overlapped_tx_length : 40783
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67929234
Intersect_end : 67970017
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02439Gene_name : LINC02439;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370016
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_134997
Tx_version : 1
Tx_start : 118818803
Tx_end : 118833536
Exon_count : 3
Overlapped_tx_length : 14733
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118818803
Intersect_end : 118833536
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:118796546-118852767; chr12:118796655-118852819
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CNPY2-AS1Gene_name : CNPY2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 112268098
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : XR_002957416
Tx_version : 2
Tx_start : 56311413
Tx_end : 56314808
Exon_count : 2
Overlapped_tx_length : 3395
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56311413
Intersect_end : 56314808
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02419Gene_name : LINC02419;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370078
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_146538
Tx_version : 1
Tx_start : 130071334
Tx_end : 130072685
Exon_count : 2
Overlapped_tx_length : 1351
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130071334
Intersect_end : 130072685
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00507Gene_name : LINC00507;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100862680
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_046392
Tx_version : 1
Tx_start : 127915409
Tx_end : 127951552
Exon_count : 5
Overlapped_tx_length : 36143
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127915409
Intersect_end : 127951552
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3652Gene_name : MIR3652;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500842
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_037425
Tx_version : 1
Tx_start : 103930424
Tx_end : 103930555
Exon_count : 1
Overlapped_tx_length : 131
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103930424
Intersect_end : 103930555
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR7851Gene_name : MIR7851;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102467003
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_107005
Tx_version : 1
Tx_start : 42323699
Tx_end : 42323859
Exon_count : 1
Overlapped_tx_length : 160
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42323699
Intersect_end : 42323859
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR7107Gene_name : MIR7107;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465665
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_106957
Tx_version : 1
Tx_start : 121444272
Tx_end : 121444352
Exon_count : 1
Overlapped_tx_length : 80
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121444272
Intersect_end : 121444352
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GLIPR1-AS1Gene_name : GLIPR1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 123706544
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063373
Tx_version : 1
Tx_start : 75483453
Tx_end : 75489821
Exon_count : 2
Overlapped_tx_length : 6368
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75483453
Intersect_end : 75489821
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02381Gene_name : LINC02381;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400043
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_026656
Tx_version : 1
Tx_start : 54126070
Tx_end : 54132843
Exon_count : 2
Overlapped_tx_length : 6773
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54126070
Intersect_end : 54132843
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
UQCC6Gene_name : UQCC6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 728568
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : XM_011538718
Tx_version : 4
Tx_start : 103950193
Tx_end : 103957215
Exon_count : 5
Overlapped_tx_length : 7022
Overlapped_CDS_length : 429
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103950193
Intersect_end : 103957215
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02387Gene_name : LINC02387;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929027
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_146469
Tx_version : 1
Tx_start : 31363480
Tx_end : 31369301
Exon_count : 2
Overlapped_tx_length : 5821
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31363480
Intersect_end : 31369301
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6880Gene_name : MIR6880;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466204
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_106940
Tx_version : 1
Tx_start : 124337180
Tx_end : 124337242
Exon_count : 1
Overlapped_tx_length : 62
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124337180
Intersect_end : 124337242
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA105CGene_name : SNORA105C;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 106635541
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_132789
Tx_version : 1
Tx_start : 56512864
Tx_end : 56512980
Exon_count : 1
Overlapped_tx_length : 116
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56512864
Intersect_end : 56512980
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC4A8-AS1Gene_name : SLC4A8-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984508
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_001749147
Tx_version : 2
Tx_start : 51421898
Tx_end : 51425328
Exon_count : 3
Overlapped_tx_length : 3430
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51421898
Intersect_end : 51425328
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BLTP3BGene_name : BLTP3B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23074
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_015054
Tx_version : 2
Tx_start : 100037071
Tx_end : 100142874
Exon_count : 21
Overlapped_tx_length : 105803
Overlapped_CDS_length : 4395
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100037071
Intersect_end : 100142874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BTG1-DTGene_name : BTG1-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928617
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_135036
Tx_version : 1
Tx_start : 92146084
Tx_end : 92185784
Exon_count : 3
Overlapped_tx_length : 39700
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92146084
Intersect_end : 92185784
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02370Gene_name : LINC02370;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338797
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_103736
Tx_version : 1
Tx_start : 131347469
Tx_end : 131367555
Exon_count : 5
Overlapped_tx_length : 20086
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131347469
Intersect_end : 131367555
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GARIN6Gene_name : GARIN6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196472
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_153364
Tx_version : 4
Tx_start : 99647752
Tx_end : 99650114
Exon_count : 2
Overlapped_tx_length : 2362
Overlapped_CDS_length : 726
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 99647752
Intersect_end : 99650114
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:99642467-99681525; chr12:99644581-99650237
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02375Gene_name : LINC02375;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927616
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_110057
Tx_version : 1
Tx_start : 127324154
Tx_end : 127340072
Exon_count : 3
Overlapped_tx_length : 15918
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127324154
Intersect_end : 127340072
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR616Gene_name : MIR616;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693201
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_030346
Tx_version : 1
Tx_start : 57519162
Tx_end : 57519259
Exon_count : 1
Overlapped_tx_length : 97
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57519162
Intersect_end : 57519259
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02416Gene_name : LINC02416;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984528
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_183615
Tx_version : 1
Tx_start : 47353767
Tx_end : 47371840
Exon_count : 4
Overlapped_tx_length : 18073
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47353767
Intersect_end : 47371840
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:47332217-47419217
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HOXC-AS3Gene_name : HOXC-AS3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100874365
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_047506
Tx_version : 1
Tx_start : 53983950
Tx_end : 53985519
Exon_count : 3
Overlapped_tx_length : 1569
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53983950
Intersect_end : 53985519
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3612Gene_name : MIR3612;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500817
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_037406
Tx_version : 1
Tx_start : 128294091
Tx_end : 128294178
Exon_count : 1
Overlapped_tx_length : 87
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128294091
Intersect_end : 128294178
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02394Gene_name : LINC02394;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369841
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : NR_187487
Tx_version : 1
Tx_start : 74022079
Tx_end : 74049981
Exon_count : 3
Overlapped_tx_length : 27902
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74022079
Intersect_end : 74049981
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:73895447-74086599; chr12:74004415-74059527; chr12:74014370-74072583
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02413Gene_name : LINC02413;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369906
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945212
Tx_version : 3
Tx_start : 92990744
Tx_end : 93019607
Exon_count : 4
Overlapped_tx_length : 28863
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92990744
Intersect_end : 93019607
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNRPF-DTGene_name : SNRPF-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369921
txStart-txEndLocation : txStart-txEnd
CytoBand : q22-q23.1
Location2 : UTR
Tx : NR_135014
Tx_version : 1
Tx_start : 95795344
Tx_end : 95858839
Exon_count : 3
Overlapped_tx_length : 63495
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95795344
Intersect_end : 95858839
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TNS2-AS1Gene_name : TNS2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283335
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_033854
Tx_version : 1
Tx_start : 53043188
Tx_end : 53054438
Exon_count : 4
Overlapped_tx_length : 11250
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53043188
Intersect_end : 53054438
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02441Gene_name : LINC02441;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370070
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_131985
Tx_version : 1
Tx_start : 128023787
Tx_end : 128027166
Exon_count : 3
Overlapped_tx_length : 3379
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128023787
Intersect_end : 128027166
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TROAP-AS1Gene_name : TROAP-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927267
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_120449
Tx_version : 1
Tx_start : 49292630
Tx_end : 49324576
Exon_count : 8
Overlapped_tx_length : 31946
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49292630
Intersect_end : 49324576
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:49295147-49298686P_loss_coord : 12:49295147-49298686
P_loss_source : morbid:PRPH
P_loss_phen : Amyotrophic lateral sclerosis, susceptibility to, 105400 (3) AR,AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RASSF3-DTGene_name : RASSF3-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369804
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : NR_187549
Tx_version : 1
Tx_start : 64599077
Tx_end : 64609466
Exon_count : 2
Overlapped_tx_length : 10389
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64599077
Intersect_end : 64609466
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PHLDA1-AS1Gene_name : PHLDA1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766149
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_186034
Tx_version : 1
Tx_start : 76030493
Tx_end : 76031378
Exon_count : 2
Overlapped_tx_length : 885
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76030493
Intersect_end : 76031378
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MTERF2Gene_name : MTERF2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 62.69
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80298
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001033050
Tx_version : 3
Tx_start : 106977276
Tx_end : 106987146
Exon_count : 3
Overlapped_tx_length : 9870
Overlapped_CDS_length : 1158
Overlapped_CDS_percent : 95
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106977276
Intersect_end : 106987146
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SBNO1-AS1Gene_name : SBNO1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 112268105
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_157805
Tx_version : 1
Tx_start : 123364947
Tx_end : 123365804
Exon_count : 2
Overlapped_tx_length : 857
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123364947
Intersect_end : 123365804
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM132D-AS1Gene_name : TMEM132D-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283352
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_104172
Tx_version : 2
Tx_start : 129109689
Tx_end : 129113298
Exon_count : 4
Overlapped_tx_length : 3609
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129109689
Intersect_end : 129113298
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PHETA1Gene_name : PHETA1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 144717
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : 5'UTR-3'UTR
Tx : NM_001177996
Tx_version : 3
Tx_start : 111360678
Tx_end : 111369095
Exon_count : 4
Overlapped_tx_length : 8417
Overlapped_CDS_length : 789
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111360678
Intersect_end : 111369095
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6125Gene_name : MIR6125;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465133
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_106740
Tx_version : 1
Tx_start : 62260358
Tx_end : 62260454
Exon_count : 1
Overlapped_tx_length : 96
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62260358
Intersect_end : 62260454
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4498Gene_name : MIR4498;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616179
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_039719
Tx_version : 1
Tx_start : 120155433
Tx_end : 120155499
Exon_count : 1
Overlapped_tx_length : 66
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120155433
Intersect_end : 120155499
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02442Gene_name : LINC02442;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369815
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_183543
Tx_version : 1
Tx_start : 67570689
Tx_end : 67589990
Exon_count : 3
Overlapped_tx_length : 19301
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67570689
Intersect_end : 67589990
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAM242CGene_name : FAM242C;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 112488744
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_170197
Tx_version : 1
Tx_start : 54121276
Tx_end : 54126395
Exon_count : 3
Overlapped_tx_length : 5119
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54121276
Intersect_end : 54126395
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATXN2-ASGene_name : ATXN2-AS;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102723619
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : NR_146497
Tx_version : 1
Tx_start : 111599497
Tx_end : 111600255
Exon_count : 2
Overlapped_tx_length : 758
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111599497
Intersect_end : 111600255
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02231Gene_name : LINC02231;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109729131
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_146276
Tx_version : 1
Tx_start : 64920844
Tx_end : 64992291
Exon_count : 4
Overlapped_tx_length : 71447
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64920844
Intersect_end : 64992291
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PLEKHA8P1Gene_name : PLEKHA8P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51054
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_037144
Tx_version : 1
Tx_start : 45173033
Tx_end : 45216006
Exon_count : 3
Overlapped_tx_length : 42973
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45173033
Intersect_end : 45216006
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6502Gene_name : MIR6502;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465249
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_106757
Tx_version : 1
Tx_start : 66251081
Tx_end : 66251157
Exon_count : 1
Overlapped_tx_length : 76
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66251081
Intersect_end : 66251157
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PAFAH1B2P2Gene_name : PAFAH1B2P2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 643711
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_077241
Tx_version : 1
Tx_start : 97713411
Tx_end : 97753598
Exon_count : 7
Overlapped_tx_length : 40187
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97713411
Intersect_end : 97753598
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RNU4-1Gene_name : RNU4-1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26835
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_003925
Tx_version : 1
Tx_start : 120293093
Tx_end : 120293237
Exon_count : 1
Overlapped_tx_length : 144
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120293093
Intersect_end : 120293237
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02372Gene_name : LINC02372;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440117
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_033970
Tx_version : 1
Tx_start : 126869493
Tx_end : 126874690
Exon_count : 3
Overlapped_tx_length : 5197
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126869493
Intersect_end : 126874690
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126839969-126935623
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00944Gene_name : LINC00944;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387895
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_033878
Tx_version : 1
Tx_start : 126730700
Tx_end : 126772262
Exon_count : 5
Overlapped_tx_length : 41562
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126730700
Intersect_end : 126772262
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126655522-126828089
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1827Gene_name : MIR1827;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302217
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_031728
Tx_version : 1
Tx_start : 100189883
Tx_end : 100189949
Exon_count : 1
Overlapped_tx_length : 66
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100189883
Intersect_end : 100189949
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SLC38A2-AS1Gene_name : SLC38A2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102723757
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_187299
Tx_version : 1
Tx_start : 46372782
Tx_end : 46373778
Exon_count : 2
Overlapped_tx_length : 996
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46372782
Intersect_end : 46373778
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
DDX11-AS1Gene_name : DDX11-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506660
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_038927
Tx_version : 2
Tx_start : 31020762
Tx_end : 31073847
Exon_count : 3
Overlapped_tx_length : 53085
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31020762
Intersect_end : 31073847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02450Gene_name : LINC02450;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369739
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_135028
Tx_version : 1
Tx_start : 42692215
Tx_end : 42717119
Exon_count : 4
Overlapped_tx_length : 24904
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42692215
Intersect_end : 42717119
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA113Gene_name : SNORA113;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623461
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_145803
Tx_version : 1
Tx_start : 69515439
Tx_end : 69515593
Exon_count : 1
Overlapped_tx_length : 154
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69515439
Intersect_end : 69515593
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00485Gene_name : LINC00485;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283432
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_033855
Tx_version : 1
Tx_start : 102809282
Tx_end : 102824399
Exon_count : 5
Overlapped_tx_length : 15117
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102809282
Intersect_end : 102824399
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBX3-AS1Gene_name : TBX3-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370000
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : NR_187552
Tx_version : 1
Tx_start : 114682291
Tx_end : 114767988
Exon_count : 2
Overlapped_tx_length : 85697
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114682291
Intersect_end : 114767988
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
GPR84-AS1Gene_name : GPR84-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102724050
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_120486
Tx_version : 1
Tx_start : 54353690
Tx_end : 54467030
Exon_count : 4
Overlapped_tx_length : 113340
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54353690
Intersect_end : 54467030
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SMIM41Gene_name : SMIM41;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113523638
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001369216
Tx_version : 1
Tx_start : 52079703
Tx_end : 52108255
Exon_count : 3
Overlapped_tx_length : 28552
Overlapped_CDS_length : 282
Overlapped_CDS_percent : 70
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52079703
Intersect_end : 52108255
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FAM222A-AS1Gene_name : FAM222A-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84983
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_026661
Tx_version : 2
Tx_start : 109734208
Tx_end : 109773487
Exon_count : 4
Overlapped_tx_length : 39279
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109734208
Intersect_end : 109773487
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATP2B1-AS1Gene_name : ATP2B1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338758
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_028138
Tx_version : 1
Tx_start : 89708954
Tx_end : 89711952
Exon_count : 1
Overlapped_tx_length : 2998
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89708954
Intersect_end : 89711952
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA70GGene_name : SNORA70G;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100379132
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_033335
Tx_version : 1
Tx_start : 68627233
Tx_end : 68627375
Exon_count : 1
Overlapped_tx_length : 142
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68627233
Intersect_end : 68627375
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LHX5-AS1Gene_name : LHX5-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 104355219
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_126425
Tx_version : 1
Tx_start : 113472002
Tx_end : 113480481
Exon_count : 2
Overlapped_tx_length : 8479
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113472002
Intersect_end : 113480481
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SPMIP11Gene_name : SPMIP11;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 255411
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001351123
Tx_version : 2
Tx_start : 48727434
Tx_end : 48765790
Exon_count : 4
Overlapped_tx_length : 38356
Overlapped_CDS_length : 396
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48727434
Intersect_end : 48765790
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CASC18Gene_name : CASC18;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929110
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_110108
Tx_version : 1
Tx_start : 105704202
Tx_end : 105744063
Exon_count : 3
Overlapped_tx_length : 39861
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105704202
Intersect_end : 105744063
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4701Gene_name : MIR4701;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616262
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_039850
Tx_version : 2
Tx_start : 48771974
Tx_end : 48772037
Exon_count : 1
Overlapped_tx_length : 63
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48771974
Intersect_end : 48772037
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00943Gene_name : LINC00943;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507206
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_038256
Tx_version : 1
Tx_start : 126737006
Tx_end : 126746256
Exon_count : 4
Overlapped_tx_length : 9250
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126737006
Intersect_end : 126746256
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126655522-126828089; chr12:126719886-126758432
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORD59BGene_name : SNORD59B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 692090
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_003046
Tx_version : 1
Tx_start : 56643679
Tx_end : 56643754
Exon_count : 1
Overlapped_tx_length : 75
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56643679
Intersect_end : 56643754
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02385Gene_name : LINC02385;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369948
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945288
Tx_version : 4
Tx_start : 104169971
Tx_end : 104177661
Exon_count : 3
Overlapped_tx_length : 7690
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104169971
Intersect_end : 104177661
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02823Gene_name : LINC02823;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369897
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_183611
Tx_version : 1
Tx_start : 91326925
Tx_end : 91368606
Exon_count : 4
Overlapped_tx_length : 41681
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91326925
Intersect_end : 91368606
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272; chr12:91326228-91718339
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02423Gene_name : LINC02423;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370014
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_134998
Tx_version : 1
Tx_start : 118758753
Tx_end : 118761679
Exon_count : 3
Overlapped_tx_length : 2926
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118758753
Intersect_end : 118761679
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
CAPS2-AS1Gene_name : CAPS2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107983975
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749212
Tx_version : 2
Tx_start : 75258189
Tx_end : 75298285
Exon_count : 5
Overlapped_tx_length : 40096
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75258189
Intersect_end : 75298285
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02421Gene_name : LINC02421;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927901
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_110063
Tx_version : 1
Tx_start : 67709046
Tx_end : 67729475
Exon_count : 5
Overlapped_tx_length : 20429
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67709046
Intersect_end : 67729475
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR9902-2Gene_name : MIR9902-2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113218511
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_162150
Tx_version : 1
Tx_start : 122709331
Tx_end : 122709424
Exon_count : 1
Overlapped_tx_length : 93
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122709331
Intersect_end : 122709424
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:122701033-122714056; chr12:122702434-122717012; chr12:122705237-122718620
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FIGNL2-DTGene_name : FIGNL2-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369971
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_135803
Tx_version : 1
Tx_start : 51848222
Tx_end : 51852729
Exon_count : 3
Overlapped_tx_length : 4507
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51848222
Intersect_end : 51852729
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4700Gene_name : MIR4700;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616329
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_039849
Tx_version : 1
Tx_start : 120723192
Tx_end : 120723266
Exon_count : 1
Overlapped_tx_length : 74
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120723192
Intersect_end : 120723266
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01405Gene_name : LINC01405;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100131138
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_036513
Tx_version : 1
Tx_start : 110936601
Tx_end : 110937448
Exon_count : 2
Overlapped_tx_length : 847
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110936601
Intersect_end : 110937448
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02393Gene_name : LINC02393;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 400087
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_033987
Tx_version : 1
Tx_start : 127881616
Tx_end : 127898639
Exon_count : 3
Overlapped_tx_length : 17023
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127881616
Intersect_end : 127898639
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00508Gene_name : LINC00508;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 104472718
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_126452
Tx_version : 2
Tx_start : 127883988
Tx_end : 127983891
Exon_count : 4
Overlapped_tx_length : 99903
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127883988
Intersect_end : 127983891
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ABTB3Gene_name : ABTB3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121551
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001018072
Tx_version : 2
Tx_start : 107318433
Tx_end : 107659642
Exon_count : 17
Overlapped_tx_length : 341209
Overlapped_CDS_length : 3315
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107318433
Intersect_end : 107659642
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02408Gene_name : LINC02408;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507175
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_103861
Tx_version : 1
Tx_start : 67520081
Tx_end : 67567131
Exon_count : 3
Overlapped_tx_length : 47050
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67520081
Intersect_end : 67567131
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYG1Gene_name : MYG1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 60314
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_021640
Tx_version : 4
Tx_start : 53299694
Tx_end : 53307177
Exon_count : 7
Overlapped_tx_length : 7483
Overlapped_CDS_length : 1131
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53299694
Intersect_end : 53307177
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA2AGene_name : SNORA2A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 677793
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_002950
Tx_version : 1
Tx_start : 48656647
Tx_end : 48656782
Exon_count : 1
Overlapped_tx_length : 135
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48656647
Intersect_end : 48656782
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02882Gene_name : LINC02882;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507377
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : NR_038300
Tx_version : 1
Tx_start : 74133172
Tx_end : 74292631
Exon_count : 7
Overlapped_tx_length : 159459
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74133172
Intersect_end : 74292631
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM263Gene_name : TMEM263;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 9.89
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 90488
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001319661
Tx_version : 2
Tx_start : 106955906
Tx_end : 106974035
Exon_count : 3
Overlapped_tx_length : 18129
Overlapped_CDS_length : 351
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106955906
Intersect_end : 106974035
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PHLDA1-DTGene_name : PHLDA1-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766142
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_185978
Tx_version : 1
Tx_start : 76031812
Tx_end : 76034389
Exon_count : 2
Overlapped_tx_length : 2577
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76031812
Intersect_end : 76034389
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02405Gene_name : LINC02405;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927592
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_104646
Tx_version : 1
Tx_start : 126915226
Tx_end : 127060397
Exon_count : 7
Overlapped_tx_length : 145171
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126915226
Intersect_end : 127060397
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1279Gene_name : MIR1279;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302182
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_031692
Tx_version : 1
Tx_start : 69273156
Tx_end : 69273218
Exon_count : 1
Overlapped_tx_length : 62
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69273156
Intersect_end : 69273218
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
NOPCHAP1Gene_name : NOPCHAP1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 121053
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_152318
Tx_version : 3
Tx_start : 104986315
Tx_end : 105017625
Exon_count : 4
Overlapped_tx_length : 31310
Overlapped_CDS_length : 558
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104986315
Intersect_end : 105017625
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PCED1BGene_name : PCED1B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : 8.2661e-03
HI : .
TS : .
DDD_HI_percent : 83.96
ACMG : .
ExAC_cnvZ : 0.415351080506583
ExAC_delZ : 0.0860561156597699
ExAC_dupZ : 0.365025502547288
ExAC_synZ : 1.07909940478598
ExAC_misZ : 1.71420523799133
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 91523
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_001281429
Tx_version : 2
Tx_start : 47079620
Tx_end : 47236660
Exon_count : 3
Overlapped_tx_length : 157040
Overlapped_CDS_length : 1299
Overlapped_CDS_percent : 81
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47079620
Intersect_end : 47236660
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
USP30-AS1Gene_name : USP30-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100131733
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_038996
Tx_version : 1
Tx_start : 109052040
Tx_end : 109053965
Exon_count : 2
Overlapped_tx_length : 1925
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109052040
Intersect_end : 109053965
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMED2-DTGene_name : TMED2-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927415
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_110049
Tx_version : 2
Tx_start : 123581065
Tx_end : 123584327
Exon_count : 3
Overlapped_tx_length : 3262
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123581065
Intersect_end : 123584327
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1291Gene_name : MIR1291;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302221
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_031623
Tx_version : 1
Tx_start : 48654443
Tx_end : 48654530
Exon_count : 1
Overlapped_tx_length : 87
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48654443
Intersect_end : 48654530
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02445Gene_name : LINC02445;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369840
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063369
Tx_version : 1
Tx_start : 73758656
Tx_end : 73846177
Exon_count : 4
Overlapped_tx_length : 87521
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 73758656
Intersect_end : 73846177
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR7106Gene_name : MIR7106;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466222
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_106956
Tx_version : 1
Tx_start : 113159112
Tx_end : 113159177
Exon_count : 1
Overlapped_tx_length : 65
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113159112
Intersect_end : 113159177
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1228Gene_name : MIR1228;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302201
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_031597
Tx_version : 1
Tx_start : 57194503
Tx_end : 57194576
Exon_count : 1
Overlapped_tx_length : 73
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57194503
Intersect_end : 57194576
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4494Gene_name : MIR4494;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616478
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_039715
Tx_version : 1
Tx_start : 47364185
Tx_end : 47364269
Exon_count : 1
Overlapped_tx_length : 84
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47364185
Intersect_end : 47364269
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:47332217-47419217
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT73-AS1Gene_name : KRT73-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100127967
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_126005
Tx_version : 1
Tx_start : 52609850
Tx_end : 52615305
Exon_count : 3
Overlapped_tx_length : 5455
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52609850
Intersect_end : 52615305
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:52604253-52618660
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIRLET7IGene_name : MIRLET7I;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 406891
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_029661
Tx_version : 1
Tx_start : 62603685
Tx_end : 62603769
Exon_count : 1
Overlapped_tx_length : 84
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62603685
Intersect_end : 62603769
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MRS2P2Gene_name : MRS2P2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 729633
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : NR_024072
Tx_version : 2
Tx_start : 71848291
Tx_end : 71850983
Exon_count : 1
Overlapped_tx_length : 2692
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71848291
Intersect_end : 71850983
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1251Gene_name : MIR1251;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302289
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_031653
Tx_version : 1
Tx_start : 97491908
Tx_end : 97491978
Exon_count : 1
Overlapped_tx_length : 70
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97491908
Intersect_end : 97491978
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
POC1B-AS1Gene_name : POC1B-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109729146
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_146294
Tx_version : 1
Tx_start : 89525569
Tx_end : 89541542
Exon_count : 2
Overlapped_tx_length : 15973
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89525569
Intersect_end : 89541542
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ADCY6-DTGene_name : ADCY6-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506125
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_110019
Tx_version : 1
Tx_start : 48789146
Tx_end : 48790535
Exon_count : 3
Overlapped_tx_length : 1389
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48789146
Intersect_end : 48790535
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA2BGene_name : SNORA2B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 677794
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_002951
Tx_version : 1
Tx_start : 48667456
Tx_end : 48667593
Exon_count : 1
Overlapped_tx_length : 137
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48667456
Intersect_end : 48667593
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC03088Gene_name : LINC03088;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 124903027
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_007063473
Tx_version : 1
Tx_start : 116661543
Tx_end : 116698179
Exon_count : 2
Overlapped_tx_length : 36636
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116661543
Intersect_end : 116698179
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR620Gene_name : MIR620;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693205
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : NR_030351
Tx_version : 1
Tx_start : 116148559
Tx_end : 116148654
Exon_count : 1
Overlapped_tx_length : 95
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116148559
Intersect_end : 116148654
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KDM2B-DTGene_name : KDM2B-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928346
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_183427
Tx_version : 1
Tx_start : 121580510
Tx_end : 121596094
Exon_count : 4
Overlapped_tx_length : 15584
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121580510
Intersect_end : 121596094
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02985Gene_name : LINC02985;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506691
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_135044
Tx_version : 1
Tx_start : 122063289
Tx_end : 122068560
Exon_count : 4
Overlapped_tx_length : 5271
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122063289
Intersect_end : 122068560
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01490Gene_name : LINC01490;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928420
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_120468
Tx_version : 1
Tx_start : 80763153
Tx_end : 80770717
Exon_count : 5
Overlapped_tx_length : 7564
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80763153
Intersect_end : 80770717
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:80502697-80806958
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PGAM1P5Gene_name : PGAM1P5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100132594
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_077225
Tx_version : 1
Tx_start : 95649254
Tx_end : 95673999
Exon_count : 5
Overlapped_tx_length : 24745
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95649254
Intersect_end : 95673999
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM263-DTGene_name : TMEM263-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 119863870
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_185933
Tx_version : 1
Tx_start : 106953512
Tx_end : 106955495
Exon_count : 1
Overlapped_tx_length : 1983
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106953512
Intersect_end : 106955495
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TSPAN11-AS1Gene_name : TSPAN11-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 124902910
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063261
Tx_version : 1
Tx_start : 30978307
Tx_end : 31005972
Exon_count : 3
Overlapped_tx_length : 27665
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 30978307
Intersect_end : 31005972
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01404Gene_name : LINC01404;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369980
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_135001
Tx_version : 1
Tx_start : 110951682
Tx_end : 110957818
Exon_count : 4
Overlapped_tx_length : 6136
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110951682
Intersect_end : 110957818
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR5188Gene_name : MIR5188;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100847004
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_049820
Tx_version : 1
Tx_start : 124915546
Tx_end : 124915659
Exon_count : 1
Overlapped_tx_length : 113
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124915546
Intersect_end : 124915659
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02822Gene_name : LINC02822;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102724834
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_429171
Tx_version : 5
Tx_start : 90593566
Tx_end : 90683348
Exon_count : 4
Overlapped_tx_length : 89782
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90593566
Intersect_end : 90683348
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90284222-90686223; chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR492Gene_name : MIR492;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 574449
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_030171
Tx_version : 1
Tx_start : 94834397
Tx_end : 94834513
Exon_count : 1
Overlapped_tx_length : 116
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94834397
Intersect_end : 94834513
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PRDM4-AS1Gene_name : PRDM4-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929162
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_120474
Tx_version : 1
Tx_start : 107736554
Tx_end : 107759968
Exon_count : 5
Overlapped_tx_length : 23414
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107736554
Intersect_end : 107759968
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4496Gene_name : MIR4496;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616240
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : NR_039717
Tx_version : 1
Tx_start : 108635809
Tx_end : 108635870
Exon_count : 1
Overlapped_tx_length : 61
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108635809
Intersect_end : 108635870
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR135A2Gene_name : MIR135A2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 406926
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_029678
Tx_version : 1
Tx_start : 97563811
Tx_end : 97563911
Exon_count : 1
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97563811
Intersect_end : 97563911
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATF7-NPFFGene_name : ATF7-NPFF;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 114108587
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001366559
Tx_version : 1
Tx_start : 53506687
Tx_end : 53626382
Exon_count : 13
Overlapped_tx_length : 119695
Overlapped_CDS_length : 1392
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53506687
Intersect_end : 53626382
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02258Gene_name : LINC02258;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 110806294
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : NR_149056
Tx_version : 1
Tx_start : 87768811
Tx_end : 87805749
Exon_count : 4
Overlapped_tx_length : 36938
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87768811
Intersect_end : 87805749
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:87669425-87863288
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
HMGA2-AS1Gene_name : HMGA2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100129940
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_158985
Tx_version : 1
Tx_start : 65851226
Tx_end : 65882325
Exon_count : 3
Overlapped_tx_length : 31099
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65851226
Intersect_end : 65882325
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MYL6B-AS1Gene_name : MYL6B-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 120766150
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : NR_186043
Tx_version : 1
Tx_start : 56150795
Tx_end : 56158225
Exon_count : 3
Overlapped_tx_length : 7430
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56150795
Intersect_end : 56158225
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TBX5-AS1Gene_name : TBX5-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 255480
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : NR_038440
Tx_version : 1
Tx_start : 114408194
Tx_end : 114412832
Exon_count : 3
Overlapped_tx_length : 4638
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114408194
Intersect_end : 114412832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02464Gene_name : LINC02464;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369854
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_187539
Tx_version : 1
Tx_start : 77219602
Tx_end : 77317234
Exon_count : 5
Overlapped_tx_length : 97632
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 77219602
Intersect_end : 77317234
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02401Gene_name : LINC02401;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929084
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_110103
Tx_version : 1
Tx_start : 103547793
Tx_end : 103559815
Exon_count : 5
Overlapped_tx_length : 12022
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103547793
Intersect_end : 103559815
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02826Gene_name : LINC02826;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370057
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_183612
Tx_version : 1
Tx_start : 125983522
Tx_end : 126043480
Exon_count : 10
Overlapped_tx_length : 59958
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125983522
Intersect_end : 126043480
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KMT5AGene_name : KMT5A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387893
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : XM_047428836
Tx_version : 1
Tx_start : 123388910
Tx_end : 123409353
Exon_count : 8
Overlapped_tx_length : 20443
Overlapped_CDS_length : 1164
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123388910
Intersect_end : 123409353
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ATG101Gene_name : ATG101;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 31.66
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 60673
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_024449120
Tx_version : 2
Tx_start : 52065299
Tx_end : 52077495
Exon_count : 5
Overlapped_tx_length : 12196
Overlapped_CDS_length : 657
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52065299
Intersect_end : 52077495
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02459Gene_name : LINC02459;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369996
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : NR_146536
Tx_version : 1
Tx_start : 114238970
Tx_end : 114241770
Exon_count : 2
Overlapped_tx_length : 2800
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114238970
Intersect_end : 114241770
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3657Gene_name : MIR3657;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500889
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_037430
Tx_version : 1
Tx_start : 112037598
Tx_end : 112037715
Exon_count : 1
Overlapped_tx_length : 117
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112037598
Intersect_end : 112037715
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TTC41PGene_name : TTC41P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 253724
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_027249
Tx_version : 1
Tx_start : 103843748
Tx_end : 103930211
Exon_count : 16
Overlapped_tx_length : 86463
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103843748
Intersect_end : 103930211
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6758Gene_name : MIR6758;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465454
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_106816
Tx_version : 1
Tx_start : 57512687
Tx_end : 57512750
Exon_count : 1
Overlapped_tx_length : 63
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57512687
Intersect_end : 57512750
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RMSTGene_name : RMST;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 196475
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_152618
Tx_version : 2
Tx_start : 97462803
Tx_end : 97565035
Exon_count : 11
Overlapped_tx_length : 102232
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97462803
Intersect_end : 97565035
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01089Gene_name : LINC01089;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338799
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_002809
Tx_version : 3
Tx_start : 121795266
Tx_end : 121802946
Exon_count : 7
Overlapped_tx_length : 7680
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121795266
Intersect_end : 121802946
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
KRT19P2Gene_name : KRT19P2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 160313
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_036685
Tx_version : 1
Tx_start : 94834453
Tx_end : 94835028
Exon_count : 1
Overlapped_tx_length : 575
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94834453
Intersect_end : 94835028
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02368Gene_name : LINC02368;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927694
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_104648
Tx_version : 1
Tx_start : 128118216
Tx_end : 128121952
Exon_count : 3
Overlapped_tx_length : 3736
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128118216
Intersect_end : 128121952
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
SNORA9BGene_name : SNORA9B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109616977
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_145743
Tx_version : 1
Tx_start : 123616709
Tx_end : 123616840
Exon_count : 1
Overlapped_tx_length : 131
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123616709
Intersect_end : 123616840
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dgv524e212B_loss_source : dgv524e212
B_loss_coord : 12:123614066-123625575
B_loss_AFmax : 0.0200
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR1302-1Gene_name : MIR1302-1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302227
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_031631
Tx_version : 1
Tx_start : 112695033
Tx_end : 112695176
Exon_count : 1
Overlapped_tx_length : 143
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112695033
Intersect_end : 112695176
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TAFA2Gene_name : TAFA2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 338811
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_024448962
Tx_version : 2
Tx_start : 61708272
Tx_end : 62260034
Exon_count : 6
Overlapped_tx_length : 551762
Overlapped_CDS_length : 543
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 61708272
Intersect_end : 62260034
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TNS2Gene_name : TNS2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 56.62
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23371
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_017019088
Tx_version : 2
Tx_start : 53047222
Tx_end : 53064379
Exon_count : 29
Overlapped_tx_length : 17157
Overlapped_CDS_length : 4257
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53047222
Intersect_end : 53064379
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02373Gene_name : LINC02373;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369822
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_185917
Tx_version : 1
Tx_start : 69447223
Tx_end : 69462793
Exon_count : 3
Overlapped_tx_length : 15570
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69447223
Intersect_end : 69462793
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02463Gene_name : LINC02463;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370004
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_001749337
Tx_version : 2
Tx_start : 115805982
Tx_end : 115886270
Exon_count : 5
Overlapped_tx_length : 80288
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115805982
Intersect_end : 115886270
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC00941Gene_name : LINC00941;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100287314
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_040245
Tx_version : 1
Tx_start : 30795680
Tx_end : 30802711
Exon_count : 5
Overlapped_tx_length : 7031
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 30795680
Intersect_end : 30802711
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TMEM132D-AS2Gene_name : TMEM132D-AS2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927735
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_110058
Tx_version : 1
Tx_start : 129208600
Tx_end : 129212662
Exon_count : 5
Overlapped_tx_length : 4062
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129208600
Intersect_end : 129212662
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:129183201-129249654
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR3198-2Gene_name : MIR3198-2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616400
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_039851
Tx_version : 1
Tx_start : 54231396
Tx_end : 54231476
Exon_count : 1
Overlapped_tx_length : 80
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54231396
Intersect_end : 54231476
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02820Gene_name : LINC02820;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369876
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : NR_183553
Tx_version : 1
Tx_start : 85318018
Tx_end : 85490127
Exon_count : 7
Overlapped_tx_length : 172109
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85318018
Intersect_end : 85490127
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
H1-7Gene_name : H1-7;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 341567
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : NM_181788
Tx_version : 1
Tx_start : 48328979
Tx_end : 48330279
Exon_count : 1
Overlapped_tx_length : 1300
Overlapped_CDS_length : 768
Overlapped_CDS_percent : 77
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48328979
Intersect_end : 48330279
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02460Gene_name : LINC02460;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370013
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_187536
Tx_version : 1
Tx_start : 118644668
Tx_end : 118650667
Exon_count : 4
Overlapped_tx_length : 5999
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118644668
Intersect_end : 118650667
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02392Gene_name : LINC02392;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369893
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : NR_135018
Tx_version : 1
Tx_start : 90293317
Tx_end : 90300698
Exon_count : 3
Overlapped_tx_length : 7381
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90293317
Intersect_end : 90300698
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:90284222-90686223
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02384Gene_name : LINC02384;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507195
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_120458
Tx_version : 1
Tx_start : 68431841
Tx_end : 68451484
Exon_count : 4
Overlapped_tx_length : 19643
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68431841
Intersect_end : 68451484
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01257Gene_name : LINC01257;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 116437
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_026670
Tx_version : 2
Tx_start : 131165010
Tx_end : 131212931
Exon_count : 5
Overlapped_tx_length : 47921
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131165010
Intersect_end : 131212931
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02824Gene_name : LINC02824;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105370060
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_183614
Tx_version : 1
Tx_start : 126690415
Tx_end : 126720330
Exon_count : 5
Overlapped_tx_length : 29915
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126690415
Intersect_end : 126720330
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126655522-126828089
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4303Gene_name : MIR4303;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100422924
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_036189
Tx_version : 1
Tx_start : 97995382
Tx_end : 97995448
Exon_count : 1
Overlapped_tx_length : 66
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97995382
Intersect_end : 97995448
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
RPSAP52Gene_name : RPSAP52;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 204010
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_026825
Tx_version : 2
Tx_start : 65758019
Tx_end : 65826974
Exon_count : 2
Overlapped_tx_length : 68955
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65758019
Intersect_end : 65826974
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Silver-Russell_syndrome_5
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR4495Gene_name : MIR4495;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616287
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_039716
Tx_version : 1
Tx_start : 97939055
Tx_end : 97939121
Exon_count : 1
Overlapped_tx_length : 66
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97939055
Intersect_end : 97939121
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
PPP1R12A-AS2Gene_name : PPP1R12A-AS2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369864
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_187531
Tx_version : 1
Tx_start : 79690031
Tx_end : 79779906
Exon_count : 7
Overlapped_tx_length : 89875
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79690031
Intersect_end : 79779906
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC01234Gene_name : LINC01234;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506465
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_110025
Tx_version : 1
Tx_start : 113744576
Tx_end : 113773683
Exon_count : 2
Overlapped_tx_length : 29107
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113744576
Intersect_end : 113773683
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02821Gene_name : LINC02821;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369826
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_945070
Tx_version : 3
Tx_start : 70180326
Tx_end : 70200751
Exon_count : 3
Overlapped_tx_length : 20425
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70180326
Intersect_end : 70200751
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LINC02356Gene_name : LINC02356;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369984
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : NR_187520
Tx_version : 1
Tx_start : 111369260
Tx_end : 111403310
Exon_count : 3
Overlapped_tx_length : 34050
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111369260
Intersect_end : 111403310
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
TODLGene_name : TODL;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 107984471
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_001749099
Tx_version : 2
Tx_start : 69007658
Tx_end : 69025331
Exon_count : 3
Overlapped_tx_length : 17673
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69007658
Intersect_end : 69025331
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FIGNL2Gene_name : FIGNL2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 401720
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : XM_017019298
Tx_version : 2
Tx_start : 51817898
Tx_end : 51840524
Exon_count : 2
Overlapped_tx_length : 22626
Overlapped_CDS_length : 2304
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51817898
Intersect_end : 51840524
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
MIR6762Gene_name : MIR6762;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102465457
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : NR_106820
Tx_version : 1
Tx_start : 113291522
Tx_end : 113291608
Exon_count : 1
Overlapped_tx_length : 86
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113291522
Intersect_end : 113291608
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:113275728-113325765; chr12:113276195-113301195
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370056Gene_name : LOC105370056;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_001749370
Tx_version : 2
Tx_start : 126014384
Tx_end : 126030540
Exon_count : 3
Overlapped_tx_length : 16156
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126014384
Intersect_end : 126030540
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369989Gene_name : LOC105369989;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_945346
Tx_version : 3
Tx_start : 113353456
Tx_end : 113359510
Exon_count : 3
Overlapped_tx_length : 6054
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113353456
Intersect_end : 113359510
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107987177Gene_name : LOC107987177;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_001749181
Tx_version : 1
Tx_start : 131272169
Tx_end : 131273484
Exon_count : 2
Overlapped_tx_length : 1315
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131272169
Intersect_end : 131273484
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; DDD:40091; dbVar; dgv29e203
B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; chr12:131245648-131286518; 12:131245649-131286518; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210; chr12:131260754-131295455; chr12:131271539-131277732; chr12:131271545-131277764; 12:131271546-131277764; 12:131271549-131277748
B_loss_AFmax : 0.0148
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
OVOS2Gene_name : OVOS2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_153414
Tx_version : 1
Tx_start : 31111651
Tx_end : 31201235
Exon_count : 45
Overlapped_tx_length : 89584
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31111651
Intersect_end : 31201235
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369955Gene_name : LOC105369955;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945295
Tx_version : 3
Tx_start : 105426621
Tx_end : 105442897
Exon_count : 3
Overlapped_tx_length : 16276
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105426621
Intersect_end : 105442897
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902970Gene_name : LOC124902970;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063379
Tx_version : 1
Tx_start : 76085084
Tx_end : 76086733
Exon_count : 2
Overlapped_tx_length : 1649
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76085084
Intersect_end : 76086733
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370064Gene_name : LOC105370064;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_001749391
Tx_version : 2
Tx_start : 127184124
Tx_end : 127205927
Exon_count : 2
Overlapped_tx_length : 21803
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127184124
Intersect_end : 127205927
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984542Gene_name : LOC107984542;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_007063394
Tx_version : 1
Tx_start : 88033092
Tx_end : 88035496
Exon_count : 3
Overlapped_tx_length : 2404
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88033092
Intersect_end : 88035496
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:88027812-88118905
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369885Gene_name : LOC105369885;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32-q21.33
Location2 : UTR
Tx : NR_188177
Tx_version : 1
Tx_start : 88580535
Tx_end : 88600599
Exon_count : 4
Overlapped_tx_length : 20064
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88580535
Intersect_end : 88600599
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369964Gene_name : LOC105369964;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945320
Tx_version : 2
Tx_start : 107912750
Tx_end : 107916288
Exon_count : 4
Overlapped_tx_length : 3538
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107912750
Intersect_end : 107916288
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903030Gene_name : LOC124903030;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063479
Tx_version : 1
Tx_start : 118061459
Tx_end : 118077980
Exon_count : 2
Overlapped_tx_length : 16521
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118061459
Intersect_end : 118077980
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902913Gene_name : LOC124902913;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063269
Tx_version : 1
Tx_start : 31626274
Tx_end : 31652058
Exon_count : 2
Overlapped_tx_length : 25784
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31626274
Intersect_end : 31652058
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902964Gene_name : LOC124902964;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063366
Tx_version : 1
Tx_start : 71587629
Tx_end : 71593552
Exon_count : 2
Overlapped_tx_length : 5923
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71587629
Intersect_end : 71593552
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100996696Gene_name : LOC100996696;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_047429976
Tx_version : 1
Tx_start : 59812093
Tx_end : 59812618
Exon_count : 1
Overlapped_tx_length : 525
Overlapped_CDS_length : 483
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 59812093
Intersect_end : 59812618
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:59445875-60579362
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369798Gene_name : LOC105369798;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_945018
Tx_version : 2
Tx_start : 64099419
Tx_end : 64130732
Exon_count : 2
Overlapped_tx_length : 31313
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64099419
Intersect_end : 64130732
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369976Gene_name : LOC105369976;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_945334
Tx_version : 2
Tx_start : 110082696
Tx_end : 110102376
Exon_count : 3
Overlapped_tx_length : 19680
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110082696
Intersect_end : 110102376
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927531Gene_name : LOC101927531;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_187677
Tx_version : 1
Tx_start : 126358018
Tx_end : 126361065
Exon_count : 3
Overlapped_tx_length : 3047
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126358018
Intersect_end : 126361065
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126249820-126388933
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370007Gene_name : LOC105370007;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_945394
Tx_version : 3
Tx_start : 116484397
Tx_end : 116490951
Exon_count : 3
Overlapped_tx_length : 6554
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116484397
Intersect_end : 116490951
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370047Gene_name : LOC105370047;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_188646
Tx_version : 1
Tx_start : 124513221
Tx_end : 124516798
Exon_count : 3
Overlapped_tx_length : 3577
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124513221
Intersect_end : 124516798
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900329Gene_name : LOC124900329;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063632
Tx_version : 1
Tx_start : 114737703
Tx_end : 114737798
Exon_count : 1
Overlapped_tx_length : 95
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114737703
Intersect_end : 114737798
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:114737273-114740323
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102723639Gene_name : LOC102723639;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063588
Tx_version : 1
Tx_start : 115039605
Tx_end : 115105238
Exon_count : 8
Overlapped_tx_length : 65633
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115039605
Intersect_end : 115105238
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102724680Gene_name : LOC102724680;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_945152
Tx_version : 3
Tx_start : 84912836
Tx_end : 84992657
Exon_count : 5
Overlapped_tx_length : 79821
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 84912836
Intersect_end : 84992657
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105378256Gene_name : LOC105378256;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_945331
Tx_version : 3
Tx_start : 108983754
Tx_end : 109007721
Exon_count : 3
Overlapped_tx_length : 23967
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108983754
Intersect_end : 109007721
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984450Gene_name : LOC107984450;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063520
Tx_version : 1
Tx_start : 127142004
Tx_end : 127146080
Exon_count : 3
Overlapped_tx_length : 4076
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127142004
Intersect_end : 127146080
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369928Gene_name : LOC105369928;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_945250
Tx_version : 4
Tx_start : 97185079
Tx_end : 97218097
Exon_count : 3
Overlapped_tx_length : 33018
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97185079
Intersect_end : 97218097
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903037Gene_name : LOC124903037;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063498
Tx_version : 1
Tx_start : 121375424
Tx_end : 121392426
Exon_count : 2
Overlapped_tx_length : 17002
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121375424
Intersect_end : 121392426
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902965Gene_name : LOC124902965;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063367
Tx_version : 1
Tx_start : 71671589
Tx_end : 71686064
Exon_count : 2
Overlapped_tx_length : 14475
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71671589
Intersect_end : 71686064
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370053Gene_name : LOC105370053;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945492
Tx_version : 3
Tx_start : 125151337
Tx_end : 125161019
Exon_count : 3
Overlapped_tx_length : 9682
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125151337
Intersect_end : 125161019
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984543Gene_name : LOC107984543;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063399
Tx_version : 1
Tx_start : 89712236
Tx_end : 89817100
Exon_count : 7
Overlapped_tx_length : 104864
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89712236
Intersect_end : 89817100
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369990Gene_name : LOC105369990;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_945348
Tx_version : 1
Tx_start : 113639042
Tx_end : 113644515
Exon_count : 4
Overlapped_tx_length : 5473
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113639042
Intersect_end : 113644515
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903094Gene_name : LOC124903094;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : XR_007063618
Tx_version : 1
Tx_start : 111564820
Tx_end : 111564883
Exon_count : 1
Overlapped_tx_length : 63
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111564820
Intersect_end : 111564883
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902968Gene_name : LOC124902968;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063372
Tx_version : 1
Tx_start : 75359882
Tx_end : 75361469
Exon_count : 2
Overlapped_tx_length : 1587
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75359882
Intersect_end : 75361469
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369959Gene_name : LOC105369959;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945309
Tx_version : 3
Tx_start : 105705115
Tx_end : 105708027
Exon_count : 3
Overlapped_tx_length : 2912
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105705115
Intersect_end : 105708027
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984467Gene_name : LOC107984467;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_001749160
Tx_version : 2
Tx_start : 92389744
Tx_end : 92397304
Exon_count : 3
Overlapped_tx_length : 7560
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92389744
Intersect_end : 92397304
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272; chr12:92354247-92404560
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370034Gene_name : LOC105370034;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_001749356
Tx_version : 2
Tx_start : 121664123
Tx_end : 121690702
Exon_count : 3
Overlapped_tx_length : 26579
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121664123
Intersect_end : 121690702
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100287944Gene_name : LOC100287944;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_040246
Tx_version : 1
Tx_start : 106496409
Tx_end : 106774831
Exon_count : 4
Overlapped_tx_length : 278422
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106496409
Intersect_end : 106774831
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I; Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903077Gene_name : LOC124903077;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063583
Tx_version : 1
Tx_start : 108190961
Tx_end : 108240453
Exon_count : 3
Overlapped_tx_length : 49492
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108190961
Intersect_end : 108240453
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369872Gene_name : LOC105369872;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_945148
Tx_version : 3
Tx_start : 81344077
Tx_end : 81353236
Exon_count : 4
Overlapped_tx_length : 9159
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81344077
Intersect_end : 81353236
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369811Gene_name : LOC105369811;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063352
Tx_version : 1
Tx_start : 66357137
Tx_end : 66371833
Exon_count : 4
Overlapped_tx_length : 14696
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66357137
Intersect_end : 66371833
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902960Gene_name : LOC124902960;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_007063361
Tx_version : 1
Tx_start : 70719195
Tx_end : 70773797
Exon_count : 2
Overlapped_tx_length : 54602
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70719195
Intersect_end : 70773797
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369895Gene_name : LOC105369895;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_945187
Tx_version : 2
Tx_start : 90762143
Tx_end : 90809151
Exon_count : 3
Overlapped_tx_length : 47008
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90762143
Intersect_end : 90809151
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272; chr12:90671856-90815959
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984535Gene_name : LOC107984535;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749226
Tx_version : 2
Tx_start : 81093797
Tx_end : 81125858
Exon_count : 4
Overlapped_tx_length : 32061
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 81093797
Intersect_end : 81125858
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369746Gene_name : LOC105369746;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063288
Tx_version : 1
Tx_start : 47237670
Tx_end : 47250461
Exon_count : 2
Overlapped_tx_length : 12791
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47237670
Intersect_end : 47250461
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369965Gene_name : LOC105369965;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_001749312
Tx_version : 2
Tx_start : 108184568
Tx_end : 108187819
Exon_count : 3
Overlapped_tx_length : 3251
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108184568
Intersect_end : 108187819
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369745Gene_name : LOC105369745;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_944892
Tx_version : 3
Tx_start : 45825899
Tx_end : 45849646
Exon_count : 4
Overlapped_tx_length : 23747
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45825899
Intersect_end : 45849646
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:45836590-45839496P_loss_coord : 12:45836590-45839496
P_loss_source : dbVar:nssv18326336
P_loss_phen : .
P_loss_hpo : .
10P_snvindel_nb : 10
P_snvindel_phen : ARID2-related_BAFopathy; Coffin-Siris_syndrome_6; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369801Gene_name : LOC105369801;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_945023
Tx_version : 3
Tx_start : 63995704
Tx_end : 64019779
Exon_count : 5
Overlapped_tx_length : 24075
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63995704
Intersect_end : 64019779
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370080Gene_name : LOC105370080;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_001749396
Tx_version : 2
Tx_start : 130756966
Tx_end : 130763123
Exon_count : 5
Overlapped_tx_length : 6157
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130756966
Intersect_end : 130763123
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC112268095Gene_name : LOC112268095;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_002957410
Tx_version : 2
Tx_start : 40072517
Tx_end : 40085135
Exon_count : 3
Overlapped_tx_length : 12618
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40072517
Intersect_end : 40085135
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369764Gene_name : LOC105369764;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_001749143
Tx_version : 2
Tx_start : 49964501
Tx_end : 49975505
Exon_count : 3
Overlapped_tx_length : 11004
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49964501
Intersect_end : 49975505
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC283387Gene_name : LOC283387;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_148947
Tx_version : 1
Tx_start : 57869834
Tx_end : 57896482
Exon_count : 4
Overlapped_tx_length : 26648
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57869834
Intersect_end : 57896482
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370005Gene_name : LOC105370005;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_945392
Tx_version : 2
Tx_start : 116340295
Tx_end : 116350727
Exon_count : 3
Overlapped_tx_length : 10432
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116340295
Intersect_end : 116350727
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369963Gene_name : LOC105369963;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945316
Tx_version : 2
Tx_start : 107794500
Tx_end : 107799183
Exon_count : 4
Overlapped_tx_length : 4683
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107794500
Intersect_end : 107799183
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369912Gene_name : LOC105369912;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_001749263
Tx_version : 2
Tx_start : 93969675
Tx_end : 94011343
Exon_count : 3
Overlapped_tx_length : 41668
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93969675
Intersect_end : 94011343
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC128125816Gene_name : LOC128125816;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001414998
Tx_version : 1
Tx_start : 122226429
Tx_end : 122226564
Exon_count : 1
Overlapped_tx_length : 135
Overlapped_CDS_length : 135
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122226429
Intersect_end : 122226564
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100128002Gene_name : LOC100128002;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_158870
Tx_version : 6
Tx_start : 131295390
Tx_end : 131297095
Exon_count : 1
Overlapped_tx_length : 1705
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131295390
Intersect_end : 131297095
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; dbVar; dgv29e203
B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210
B_loss_AFmax : 0.0120
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903020Gene_name : LOC124903020;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : XR_007063463
Tx_version : 1
Tx_start : 111648957
Tx_end : 111649836
Exon_count : 2
Overlapped_tx_length : 879
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111648957
Intersect_end : 111649836
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC128071547Gene_name : LOC128071547;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001414895
Tx_version : 1
Tx_start : 120534696
Tx_end : 120534957
Exon_count : 1
Overlapped_tx_length : 261
Overlapped_CDS_length : 261
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120534696
Intersect_end : 120534957
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370029Gene_name : LOC105370029;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945449
Tx_version : 3
Tx_start : 120676175
Tx_end : 120687149
Exon_count : 3
Overlapped_tx_length : 10974
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120676175
Intersect_end : 120687149
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903040Gene_name : LOC124903040;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063501
Tx_version : 1
Tx_start : 122834554
Tx_end : 122835233
Exon_count : 2
Overlapped_tx_length : 679
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122834554
Intersect_end : 122835233
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369833Gene_name : LOC105369833;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749200
Tx_version : 2
Tx_start : 71527407
Tx_end : 71575195
Exon_count : 4
Overlapped_tx_length : 47788
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71527407
Intersect_end : 71575195
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369969Gene_name : LOC105369969;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_945328
Tx_version : 4
Tx_start : 108733408
Tx_end : 108754152
Exon_count : 3
Overlapped_tx_length : 20744
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108733408
Intersect_end : 108754152
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927241Gene_name : LOC101927241;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_245978
Tx_version : 4
Tx_start : 48813761
Tx_end : 48816932
Exon_count : 3
Overlapped_tx_length : 3171
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48813761
Intersect_end : 48816932
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903119Gene_name : LOC124903119;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063651
Tx_version : 1
Tx_start : 101358747
Tx_end : 101358849
Exon_count : 1
Overlapped_tx_length : 102
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101358747
Intersect_end : 101358849
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902988Gene_name : LOC124902988;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063411
Tx_version : 1
Tx_start : 94168004
Tx_end : 94176463
Exon_count : 2
Overlapped_tx_length : 8459
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94168004
Intersect_end : 94176463
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900322Gene_name : LOC124900322;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063625
Tx_version : 1
Tx_start : 47346165
Tx_end : 47346297
Exon_count : 1
Overlapped_tx_length : 132
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47346165
Intersect_end : 47346297
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:47332217-47419217
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903106Gene_name : LOC124903106;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063643
Tx_version : 1
Tx_start : 103720941
Tx_end : 103721044
Exon_count : 1
Overlapped_tx_length : 103
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103720941
Intersect_end : 103721044
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902982Gene_name : LOC124902982;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063402
Tx_version : 1
Tx_start : 90323448
Tx_end : 90327658
Exon_count : 2
Overlapped_tx_length : 4210
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90323448
Intersect_end : 90327658
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:90284222-90686223
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903113Gene_name : LOC124903113;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063648
Tx_version : 1
Tx_start : 64760867
Tx_end : 64760973
Exon_count : 1
Overlapped_tx_length : 106
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64760867
Intersect_end : 64760973
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903007Gene_name : LOC124903007;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063442
Tx_version : 1
Tx_start : 106123717
Tx_end : 106124730
Exon_count : 2
Overlapped_tx_length : 1013
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106123717
Intersect_end : 106124730
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100652999Gene_name : LOC100652999;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_046221
Tx_version : 1
Tx_start : 53513983
Tx_end : 53517608
Exon_count : 3
Overlapped_tx_length : 3625
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53513983
Intersect_end : 53517608
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903079Gene_name : LOC124903079;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063586
Tx_version : 1
Tx_start : 114928101
Tx_end : 114933582
Exon_count : 2
Overlapped_tx_length : 5481
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114928101
Intersect_end : 114933582
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903110Gene_name : LOC124903110;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063646
Tx_version : 1
Tx_start : 48960737
Tx_end : 48960836
Exon_count : 1
Overlapped_tx_length : 99
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48960737
Intersect_end : 48960836
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369915Gene_name : LOC105369915;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_001749264
Tx_version : 2
Tx_start : 94897091
Tx_end : 94928258
Exon_count : 3
Overlapped_tx_length : 31167
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94897091
Intersect_end : 94928258
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369930Gene_name : LOC105369930;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_945255
Tx_version : 3
Tx_start : 97269800
Tx_end : 97271556
Exon_count : 3
Overlapped_tx_length : 1756
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97269800
Intersect_end : 97271556
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FLJ12825Gene_name : FLJ12825;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_026655
Tx_version : 1
Tx_start : 54058253
Tx_end : 54122234
Exon_count : 2
Overlapped_tx_length : 63981
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54058253
Intersect_end : 54122234
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902929Gene_name : LOC124902929;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063299
Tx_version : 1
Tx_start : 49707725
Tx_end : 49731449
Exon_count : 3
Overlapped_tx_length : 23724
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49707725
Intersect_end : 49731449
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369763Gene_name : LOC105369763;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_001749129
Tx_version : 2
Tx_start : 49943244
Tx_end : 49946923
Exon_count : 3
Overlapped_tx_length : 3679
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49943244
Intersect_end : 49946923
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102724030Gene_name : LOC102724030;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_187804
Tx_version : 1
Tx_start : 54163115
Tx_end : 54168595
Exon_count : 3
Overlapped_tx_length : 5480
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54163115
Intersect_end : 54168595
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105378255Gene_name : LOC105378255;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_945169
Tx_version : 1
Tx_start : 89222378
Tx_end : 89230010
Exon_count : 2
Overlapped_tx_length : 7632
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89222378
Intersect_end : 89230010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902924Gene_name : LOC124902924;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063285
Tx_version : 1
Tx_start : 46941489
Tx_end : 46949228
Exon_count : 2
Overlapped_tx_length : 7739
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46941489
Intersect_end : 46949228
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903048Gene_name : LOC124903048;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063515
Tx_version : 1
Tx_start : 126404926
Tx_end : 126407425
Exon_count : 2
Overlapped_tx_length : 2499
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126404926
Intersect_end : 126407425
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126376969-126454930
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903032Gene_name : LOC124903032;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063483
Tx_version : 1
Tx_start : 119260739
Tx_end : 119266242
Exon_count : 2
Overlapped_tx_length : 5503
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119260739
Intersect_end : 119266242
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902950Gene_name : LOC124902950;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_007063341
Tx_version : 1
Tx_start : 62128947
Tx_end : 62137474
Exon_count : 2
Overlapped_tx_length : 8527
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62128947
Intersect_end : 62137474
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900324Gene_name : LOC124900324;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063628
Tx_version : 1
Tx_start : 107374746
Tx_end : 107374829
Exon_count : 1
Overlapped_tx_length : 83
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107374746
Intersect_end : 107374829
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902952Gene_name : LOC124902952;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_007063347
Tx_version : 1
Tx_start : 64222348
Tx_end : 64229238
Exon_count : 2
Overlapped_tx_length : 6890
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64222348
Intersect_end : 64229238
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370031Gene_name : LOC105370031;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945457
Tx_version : 2
Tx_start : 121100689
Tx_end : 121108922
Exon_count : 3
Overlapped_tx_length : 8233
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121100689
Intersect_end : 121108922
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; dbVar; esv3630934B_loss_source : 1000g; dbVar; esv3630934
B_loss_coord : chr12:121063111-121157572; 12:121063112-121157572; 12:121063112-121157572
B_loss_AFmax : 0.1646
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC112268096Gene_name : LOC112268096;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063312
Tx_version : 1
Tx_start : 52089211
Tx_end : 52118218
Exon_count : 4
Overlapped_tx_length : 29007
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52089211
Intersect_end : 52118218
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369991Gene_name : LOC105369991;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_945349
Tx_version : 2
Tx_start : 113653634
Tx_end : 113656000
Exon_count : 3
Overlapped_tx_length : 2366
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113653634
Intersect_end : 113656000
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:113643005-113669147
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903098Gene_name : LOC124903098;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_007063623
Tx_version : 1
Tx_start : 64575664
Tx_end : 64575741
Exon_count : 1
Overlapped_tx_length : 77
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64575664
Intersect_end : 64575741
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC414300Gene_name : LOC414300;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_121211
Tx_version : 1
Tx_start : 105102471
Tx_end : 105107642
Exon_count : 2
Overlapped_tx_length : 5171
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105102471
Intersect_end : 105107642
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100240735Gene_name : LOC100240735;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_026658
Tx_version : 1
Tx_start : 54078838
Tx_end : 54081823
Exon_count : 3
Overlapped_tx_length : 2985
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54078838
Intersect_end : 54081823
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369747Gene_name : LOC105369747;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : NR_135024
Tx_version : 1
Tx_start : 47305916
Tx_end : 47307399
Exon_count : 2
Overlapped_tx_length : 1483
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47305916
Intersect_end : 47307399
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370066Gene_name : LOC105370066;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945526
Tx_version : 2
Tx_start : 127459947
Tx_end : 127470490
Exon_count : 3
Overlapped_tx_length : 10543
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127459947
Intersect_end : 127470490
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:127332858-127525302
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369744Gene_name : LOC105369744;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_944889
Tx_version : 2
Tx_start : 45595825
Tx_end : 45610646
Exon_count : 3
Overlapped_tx_length : 14821
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45595825
Intersect_end : 45610646
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369793Gene_name : LOC105369793;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_945013
Tx_version : 4
Tx_start : 61663446
Tx_end : 61702767
Exon_count : 7
Overlapped_tx_length : 39321
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 61663446
Intersect_end : 61702767
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370074Gene_name : LOC105370074;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063613
Tx_version : 1
Tx_start : 129458404
Tx_end : 129468645
Exon_count : 6
Overlapped_tx_length : 10241
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129458404
Intersect_end : 129468645
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903080Gene_name : LOC124903080;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063587
Tx_version : 1
Tx_start : 114948159
Tx_end : 114969861
Exon_count : 3
Overlapped_tx_length : 21702
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114948159
Intersect_end : 114969861
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370008Gene_name : LOC105370008;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_945395
Tx_version : 3
Tx_start : 116505008
Tx_end : 116508416
Exon_count : 3
Overlapped_tx_length : 3408
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116505008
Intersect_end : 116508416
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105378248Gene_name : LOC105378248;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_001749101
Tx_version : 1
Tx_start : 46269070
Tx_end : 46278613
Exon_count : 2
Overlapped_tx_length : 9543
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46269070
Intersect_end : 46278613
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369892Gene_name : LOC105369892;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_945183
Tx_version : 1
Tx_start : 90253824
Tx_end : 90263894
Exon_count : 3
Overlapped_tx_length : 10070
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90253824
Intersect_end : 90263894
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902932Gene_name : LOC124902932;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063306
Tx_version : 1
Tx_start : 50743575
Tx_end : 50757650
Exon_count : 2
Overlapped_tx_length : 14075
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50743575
Intersect_end : 50757650
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900332Gene_name : LOC124900332;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063634
Tx_version : 1
Tx_start : 71639354
Tx_end : 71639483
Exon_count : 1
Overlapped_tx_length : 129
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71639354
Intersect_end : 71639483
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902963Gene_name : LOC124902963;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063365
Tx_version : 1
Tx_start : 71576942
Tx_end : 71583530
Exon_count : 3
Overlapped_tx_length : 6588
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71576942
Intersect_end : 71583530
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903028Gene_name : LOC124903028;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_007063474
Tx_version : 1
Tx_start : 116657620
Tx_end : 116662829
Exon_count : 3
Overlapped_tx_length : 5209
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116657620
Intersect_end : 116662829
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369823Gene_name : LOC105369823;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_007063357
Tx_version : 1
Tx_start : 69624582
Tx_end : 69689076
Exon_count : 4
Overlapped_tx_length : 64494
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69624582
Intersect_end : 69689076
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369904Gene_name : LOC105369904;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945210
Tx_version : 3
Tx_start : 92505637
Tx_end : 92512128
Exon_count : 4
Overlapped_tx_length : 6491
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92505637
Intersect_end : 92512128
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903026Gene_name : LOC124903026;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063470
Tx_version : 1
Tx_start : 114621396
Tx_end : 114622924
Exon_count : 2
Overlapped_tx_length : 1528
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114621396
Intersect_end : 114622924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:114619467-114652586
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902918Gene_name : LOC124902918;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063277
Tx_version : 1
Tx_start : 39546265
Tx_end : 39549982
Exon_count : 2
Overlapped_tx_length : 3717
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39546265
Intersect_end : 39549982
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984448Gene_name : LOC107984448;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_001749384
Tx_version : 1
Tx_start : 126392742
Tx_end : 126396066
Exon_count : 3
Overlapped_tx_length : 3324
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126392742
Intersect_end : 126396066
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126376969-126454930
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369878Gene_name : LOC105369878;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_001749241
Tx_version : 1
Tx_start : 87041915
Tx_end : 87187540
Exon_count : 3
Overlapped_tx_length : 145625
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87041915
Intersect_end : 87187540
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:86905634-87204195
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369994Gene_name : LOC105369994;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_945358
Tx_version : 2
Tx_start : 114073200
Tx_end : 114077026
Exon_count : 3
Overlapped_tx_length : 3826
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114073200
Intersect_end : 114077026
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902972Gene_name : LOC124902972;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063383
Tx_version : 1
Tx_start : 77378253
Tx_end : 77390864
Exon_count : 2
Overlapped_tx_length : 12611
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 77378253
Intersect_end : 77390864
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903075Gene_name : LOC124903075;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063579
Tx_version : 1
Tx_start : 91252443
Tx_end : 91253597
Exon_count : 2
Overlapped_tx_length : 1154
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91252443
Intersect_end : 91253597
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902914Gene_name : LOC124902914;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063270
Tx_version : 1
Tx_start : 32650497
Tx_end : 32652359
Exon_count : 2
Overlapped_tx_length : 1862
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 32650497
Intersect_end : 32652359
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902993Gene_name : LOC124902993;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_007063418
Tx_version : 1
Tx_start : 97025304
Tx_end : 97036895
Exon_count : 3
Overlapped_tx_length : 11591
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97025304
Intersect_end : 97036895
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369908Gene_name : LOC105369908;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_188216
Tx_version : 1
Tx_start : 93090479
Tx_end : 93108614
Exon_count : 6
Overlapped_tx_length : 18135
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93090479
Intersect_end : 93108614
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903069Gene_name : LOC124903069;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063563
Tx_version : 1
Tx_start : 41183029
Tx_end : 41188232
Exon_count : 2
Overlapped_tx_length : 5203
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41183029
Intersect_end : 41188232
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984447Gene_name : LOC107984447;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_001749374
Tx_version : 2
Tx_start : 126110616
Tx_end : 126166228
Exon_count : 4
Overlapped_tx_length : 55612
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126110616
Intersect_end : 126166228
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903057Gene_name : LOC124903057;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063535
Tx_version : 1
Tx_start : 131670986
Tx_end : 131673398
Exon_count : 2
Overlapped_tx_length : 2412
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131670986
Intersect_end : 131673398
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370077Gene_name : LOC105370077;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_945550
Tx_version : 1
Tx_start : 130067242
Tx_end : 130071281
Exon_count : 4
Overlapped_tx_length : 4039
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130067242
Intersect_end : 130071281
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369803Gene_name : LOC105369803;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : NR_188079
Tx_version : 1
Tx_start : 64506115
Tx_end : 64537180
Exon_count : 4
Overlapped_tx_length : 31065
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64506115
Intersect_end : 64537180
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902949Gene_name : LOC124902949;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_007063337
Tx_version : 1
Tx_start : 58588283
Tx_end : 58590537
Exon_count : 3
Overlapped_tx_length : 2254
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58588283
Intersect_end : 58590537
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984545Gene_name : LOC107984545;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_001749267
Tx_version : 2
Tx_start : 95407938
Tx_end : 95448699
Exon_count : 7
Overlapped_tx_length : 40761
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95407938
Intersect_end : 95448699
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984470Gene_name : LOC107984470;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_001749064
Tx_version : 3
Tx_start : 31779061
Tx_end : 31786107
Exon_count : 3
Overlapped_tx_length : 7046
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31779061
Intersect_end : 31786107
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902962Gene_name : LOC124902962;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063364
Tx_version : 1
Tx_start : 71430073
Tx_end : 71450832
Exon_count : 3
Overlapped_tx_length : 20759
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71430073
Intersect_end : 71450832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903021Gene_name : LOC124903021;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_007063464
Tx_version : 1
Tx_start : 112018798
Tx_end : 112022150
Exon_count : 2
Overlapped_tx_length : 3352
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112018798
Intersect_end : 112022150
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100506551Gene_name : LOC100506551;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : NR_103809
Tx_version : 1
Tx_start : 116977439
Tx_end : 116987337
Exon_count : 4
Overlapped_tx_length : 9898
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 116977439
Intersect_end : 116987337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369816Gene_name : LOC105369816;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_945051
Tx_version : 3
Tx_start : 67670919
Tx_end : 67685150
Exon_count : 2
Overlapped_tx_length : 14231
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67670919
Intersect_end : 67685150
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902991Gene_name : LOC124902991;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_007063414
Tx_version : 1
Tx_start : 96231283
Tx_end : 96235596
Exon_count : 2
Overlapped_tx_length : 4313
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96231283
Intersect_end : 96235596
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984544Gene_name : LOC107984544;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_001749252
Tx_version : 2
Tx_start : 91309386
Tx_end : 91316454
Exon_count : 3
Overlapped_tx_length : 7068
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91309386
Intersect_end : 91316454
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984433Gene_name : LOC107984433;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_001749292
Tx_version : 2
Tx_start : 103841381
Tx_end : 103848799
Exon_count : 2
Overlapped_tx_length : 7418
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103841381
Intersect_end : 103848799
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369742Gene_name : LOC105369742;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_944885
Tx_version : 3
Tx_start : 45035042
Tx_end : 45045700
Exon_count : 3
Overlapped_tx_length : 10658
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45035042
Intersect_end : 45045700
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902939Gene_name : LOC124902939;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063323
Tx_version : 1
Tx_start : 54016012
Tx_end : 54017747
Exon_count : 2
Overlapped_tx_length : 1735
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54016012
Intersect_end : 54017747
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:38725; esv2672088B_loss_source : DDD:38725; esv2672088
B_loss_coord : 12:54008062-54019908; 12:54008218-54019716
B_loss_AFmax : 0.0333
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369842Gene_name : LOC105369842;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749205
Tx_version : 2
Tx_start : 74847423
Tx_end : 74934381
Exon_count : 6
Overlapped_tx_length : 86958
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74847423
Intersect_end : 74934381
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC112268101Gene_name : LOC112268101;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_002957434
Tx_version : 2
Tx_start : 119137811
Tx_end : 119151095
Exon_count : 3
Overlapped_tx_length : 13284
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119137811
Intersect_end : 119151095
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903006Gene_name : LOC124903006;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063439
Tx_version : 1
Tx_start : 105556623
Tx_end : 105579437
Exon_count : 2
Overlapped_tx_length : 22814
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105556623
Intersect_end : 105579437
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903086Gene_name : LOC124903086;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063612
Tx_version : 1
Tx_start : 129073755
Tx_end : 129082775
Exon_count : 3
Overlapped_tx_length : 9020
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129073755
Intersect_end : 129082775
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984521Gene_name : LOC107984521;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_007063348
Tx_version : 1
Tx_start : 64580614
Tx_end : 64584250
Exon_count : 2
Overlapped_tx_length : 3636
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64580614
Intersect_end : 64584250
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984476Gene_name : LOC107984476;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_001749063
Tx_version : 1
Tx_start : 30869146
Tx_end : 30880389
Exon_count : 4
Overlapped_tx_length : 11243
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 30869146
Intersect_end : 30880389
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC122455340Gene_name : LOC122455340;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : 5'UTR-3'UTR
Tx : NM_001395962
Tx_version : 1
Tx_start : 53241899
Tx_end : 53242722
Exon_count : 1
Overlapped_tx_length : 823
Overlapped_CDS_length : 519
Overlapped_CDS_percent : 64
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53241899
Intersect_end : 53242722
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369919Gene_name : LOC105369919;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_001749273
Tx_version : 2
Tx_start : 95713350
Tx_end : 95734826
Exon_count : 3
Overlapped_tx_length : 21476
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95713350
Intersect_end : 95734826
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
BLOC1S1-RDH5Gene_name : BLOC1S1-RDH5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : NR_037658
Tx_version : 1
Tx_start : 55716033
Tx_end : 55724742
Exon_count : 6
Overlapped_tx_length : 8709
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55716033
Intersect_end : 55724742
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:55720393-55724705P_loss_coord : 12:55720393-55724705
P_loss_source : morbid:RDH5
P_loss_phen : Fundus albipunctatus, 136880 (3) AR,AD
P_loss_hpo : .
32P_snvindel_nb : 32
P_snvindel_phen : Congenital_stationary_night_blindness; Fundus_albipunctatus,_autosomal_recessive; Pigmentary_retinal_dystrophy; RDH5-related_condition; Retinal_dystrophy; Retinitis_punctata_albescens; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927436Gene_name : LOC101927436;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_242964
Tx_version : 4
Tx_start : 124605022
Tx_end : 124609144
Exon_count : 4
Overlapped_tx_length : 4122
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124605022
Intersect_end : 124609144
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927180Gene_name : LOC101927180;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_047429952
Tx_version : 1
Tx_start : 48084453
Tx_end : 48087173
Exon_count : 1
Overlapped_tx_length : 2720
Overlapped_CDS_length : 360
Overlapped_CDS_percent : 17
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48084453
Intersect_end : 48087173
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101928002Gene_name : LOC101928002;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_110072
Tx_version : 2
Tx_start : 69713634
Tx_end : 69738550
Exon_count : 4
Overlapped_tx_length : 24916
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 69713634
Intersect_end : 69738550
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369961Gene_name : LOC105369961;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_001749306
Tx_version : 2
Tx_start : 106869007
Tx_end : 106881339
Exon_count : 3
Overlapped_tx_length : 12332
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106869007
Intersect_end : 106881339
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369914Gene_name : LOC105369914;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945225
Tx_version : 4
Tx_start : 94646437
Tx_end : 94651002
Exon_count : 2
Overlapped_tx_length : 4565
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94646437
Intersect_end : 94651002
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369786Gene_name : LOC105369786;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_945004
Tx_version : 3
Tx_start : 58176535
Tx_end : 58177994
Exon_count : 3
Overlapped_tx_length : 1459
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58176535
Intersect_end : 58177994
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903029Gene_name : LOC124903029;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063478
Tx_version : 1
Tx_start : 118101604
Tx_end : 118103582
Exon_count : 2
Overlapped_tx_length : 1978
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118101604
Intersect_end : 118103582
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:118100817-118112226
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370087Gene_name : LOC105370087;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_001749183
Tx_version : 1
Tx_start : 131677707
Tx_end : 131692697
Exon_count : 3
Overlapped_tx_length : 14990
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131677707
Intersect_end : 131692697
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370025Gene_name : LOC105370025;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945436
Tx_version : 2
Tx_start : 119224048
Tx_end : 119250464
Exon_count : 3
Overlapped_tx_length : 26416
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119224048
Intersect_end : 119250464
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903076Gene_name : LOC124903076;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063581
Tx_version : 1
Tx_start : 108178076
Tx_end : 108182332
Exon_count : 2
Overlapped_tx_length : 4256
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108178076
Intersect_end : 108182332
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984445Gene_name : LOC107984445;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_001749366
Tx_version : 2
Tx_start : 125284110
Tx_end : 125290400
Exon_count : 3
Overlapped_tx_length : 6290
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125284110
Intersect_end : 125290400
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:125282454-125290454
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902925Gene_name : LOC124902925;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063287
Tx_version : 1
Tx_start : 46956662
Tx_end : 46961874
Exon_count : 2
Overlapped_tx_length : 5212
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46956662
Intersect_end : 46961874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369905Gene_name : LOC105369905;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945211
Tx_version : 3
Tx_start : 92557283
Tx_end : 92630255
Exon_count : 3
Overlapped_tx_length : 72972
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92557283
Intersect_end : 92630255
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903036Gene_name : LOC124903036;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063491
Tx_version : 1
Tx_start : 120709932
Tx_end : 120710506
Exon_count : 2
Overlapped_tx_length : 574
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120709932
Intersect_end : 120710506
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903050Gene_name : LOC124903050;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063522
Tx_version : 1
Tx_start : 127284647
Tx_end : 127303790
Exon_count : 4
Overlapped_tx_length : 19143
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127284647
Intersect_end : 127303790
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369999Gene_name : LOC105369999;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_945379
Tx_version : 3
Tx_start : 114733754
Tx_end : 114734755
Exon_count : 2
Overlapped_tx_length : 1001
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114733754
Intersect_end : 114734755
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369873Gene_name : LOC105369873;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749232
Tx_version : 1
Tx_start : 82134894
Tx_end : 82308315
Exon_count : 5
Overlapped_tx_length : 173421
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 82134894
Intersect_end : 82308315
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105378247Gene_name : LOC105378247;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_944875
Tx_version : 4
Tx_start : 41987434
Tx_end : 42026602
Exon_count : 4
Overlapped_tx_length : 39168
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41987434
Intersect_end : 42026602
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902947Gene_name : LOC124902947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : XR_007063335
Tx_version : 1
Tx_start : 57457441
Tx_end : 57462972
Exon_count : 2
Overlapped_tx_length : 5531
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57457441
Intersect_end : 57462972
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903031Gene_name : LOC124903031;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063480
Tx_version : 1
Tx_start : 118375297
Tx_end : 118376127
Exon_count : 2
Overlapped_tx_length : 830
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118375297
Intersect_end : 118376127
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:118301155-118386425
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984466Gene_name : LOC107984466;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_001749082
Tx_version : 2
Tx_start : 46970091
Tx_end : 46972290
Exon_count : 3
Overlapped_tx_length : 2199
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46970091
Intersect_end : 46972290
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902998Gene_name : LOC124902998;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063426
Tx_version : 1
Tx_start : 102203254
Tx_end : 102210744
Exon_count : 2
Overlapped_tx_length : 7490
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102203254
Intersect_end : 102210744
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:102057222-102377222
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902944Gene_name : LOC124902944;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : XR_007063331
Tx_version : 1
Tx_start : 56486839
Tx_end : 56487332
Exon_count : 2
Overlapped_tx_length : 493
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56486839
Intersect_end : 56487332
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102725258Gene_name : LOC102725258;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_001749121
Tx_version : 3
Tx_start : 48198360
Tx_end : 48234716
Exon_count : 3
Overlapped_tx_length : 36356
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48198360
Intersect_end : 48234716
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984449Gene_name : LOC107984449;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : 5'UTR-3'UTR
Tx : XM_024449289
Tx_version : 2
Tx_start : 127060500
Tx_end : 127149136
Exon_count : 3
Overlapped_tx_length : 88636
Overlapped_CDS_length : 552
Overlapped_CDS_percent : 17
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127060500
Intersect_end : 127149136
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369806Gene_name : LOC105369806;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_945028
Tx_version : 3
Tx_start : 65622295
Tx_end : 65629859
Exon_count : 4
Overlapped_tx_length : 7564
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65622295
Intersect_end : 65629859
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370084Gene_name : LOC105370084;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_945565
Tx_version : 2
Tx_start : 131583581
Tx_end : 131591730
Exon_count : 3
Overlapped_tx_length : 8149
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131583581
Intersect_end : 131591730
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:131476654-131611967; chr12:131575333-131604873
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900318Gene_name : LOC124900318;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063621
Tx_version : 1
Tx_start : 103592111
Tx_end : 103592243
Exon_count : 1
Overlapped_tx_length : 132
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103592111
Intersect_end : 103592243
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369789Gene_name : LOC105369789;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_945007
Tx_version : 3
Tx_start : 58551088
Tx_end : 58557327
Exon_count : 3
Overlapped_tx_length : 6239
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58551088
Intersect_end : 58557327
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902931Gene_name : LOC124902931;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063304
Tx_version : 1
Tx_start : 50143199
Tx_end : 50165623
Exon_count : 2
Overlapped_tx_length : 22424
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50143199
Intersect_end : 50165623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903014Gene_name : LOC124903014;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063457
Tx_version : 1
Tx_start : 110369821
Tx_end : 110372600
Exon_count : 2
Overlapped_tx_length : 2779
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110369821
Intersect_end : 110372600
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:110369746-110372780
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369867Gene_name : LOC105369867;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_007063388
Tx_version : 1
Tx_start : 80530573
Tx_end : 80707238
Exon_count : 5
Overlapped_tx_length : 176665
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80530573
Intersect_end : 80707238
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:80669007-80669463P_loss_coord : 12:80669007-80669463
P_loss_source : dbVar:nssv17956485
P_loss_phen : .
P_loss_hpo : .
5P_snvindel_nb : 5
P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_84A; Hearing_impairment; Impaired_vibration_sensation_in_the_lower_limbs; Loss_of_ambulation; Pain; Pes_cavus; Pes_planus; Unsteady_gait
dbVarB_loss_source : dbVar
B_loss_coord : chr12:80502697-80806958
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984478Gene_name : LOC107984478;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_001749242
Tx_version : 3
Tx_start : 87332916
Tx_end : 87388224
Exon_count : 3
Overlapped_tx_length : 55308
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87332916
Intersect_end : 87388224
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902978Gene_name : LOC124902978;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_007063396
Tx_version : 1
Tx_start : 88379308
Tx_end : 88419279
Exon_count : 2
Overlapped_tx_length : 39971
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88379308
Intersect_end : 88419279
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902994Gene_name : LOC124902994;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_007063420
Tx_version : 1
Tx_start : 98474549
Tx_end : 98476995
Exon_count : 2
Overlapped_tx_length : 2446
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98474549
Intersect_end : 98476995
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984522Gene_name : LOC107984522;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_001749177
Tx_version : 2
Tx_start : 64987700
Tx_end : 64990646
Exon_count : 2
Overlapped_tx_length : 2946
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64987700
Intersect_end : 64990646
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:64982435-65027759
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903015Gene_name : LOC124903015;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063458
Tx_version : 1
Tx_start : 110496202
Tx_end : 110499825
Exon_count : 2
Overlapped_tx_length : 3623
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110496202
Intersect_end : 110499825
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902984Gene_name : LOC124902984;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063407
Tx_version : 1
Tx_start : 92777599
Tx_end : 92777936
Exon_count : 2
Overlapped_tx_length : 337
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92777599
Intersect_end : 92777936
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370017Gene_name : LOC105370017;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_001749169
Tx_version : 1
Tx_start : 118781039
Tx_end : 118786369
Exon_count : 3
Overlapped_tx_length : 5330
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118781039
Intersect_end : 118786369
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900327Gene_name : LOC124900327;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063630
Tx_version : 1
Tx_start : 39819749
Tx_end : 39819883
Exon_count : 1
Overlapped_tx_length : 134
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39819749
Intersect_end : 39819883
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816; chr12:39815458-39830188
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369788Gene_name : LOC105369788;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_945006
Tx_version : 2
Tx_start : 58444556
Tx_end : 58463926
Exon_count : 4
Overlapped_tx_length : 19370
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58444556
Intersect_end : 58463926
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102723340Gene_name : LOC102723340;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_001749275
Tx_version : 3
Tx_start : 95996481
Tx_end : 96011704
Exon_count : 3
Overlapped_tx_length : 15223
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95996481
Intersect_end : 96011704
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369874Gene_name : LOC105369874;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_945150
Tx_version : 3
Tx_start : 83457723
Tx_end : 83472432
Exon_count : 2
Overlapped_tx_length : 14709
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 83457723
Intersect_end : 83472432
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:83452720-83491721
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903019Gene_name : LOC124903019;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.12
Location2 : UTR
Tx : XR_007063462
Tx_version : 1
Tx_start : 111432483
Tx_end : 111444745
Exon_count : 2
Overlapped_tx_length : 12262
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111432483
Intersect_end : 111444745
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902940Gene_name : LOC124902940;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_007063324
Tx_version : 1
Tx_start : 55434733
Tx_end : 55452573
Exon_count : 2
Overlapped_tx_length : 17840
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55434733
Intersect_end : 55452573
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369784Gene_name : LOC105369784;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_001749166
Tx_version : 2
Tx_start : 58081207
Tx_end : 58097993
Exon_count : 4
Overlapped_tx_length : 16786
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58081207
Intersect_end : 58097993
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369993Gene_name : LOC105369993;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_945351
Tx_version : 2
Tx_start : 114011064
Tx_end : 114031052
Exon_count : 5
Overlapped_tx_length : 19988
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114011064
Intersect_end : 114031052
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903052Gene_name : LOC124903052;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063525
Tx_version : 1
Tx_start : 127777957
Tx_end : 127794764
Exon_count : 2
Overlapped_tx_length : 16807
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127777957
Intersect_end : 127794764
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:127777654-127798049
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984533Gene_name : LOC107984533;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_001749219
Tx_version : 2
Tx_start : 75649185
Tx_end : 75652489
Exon_count : 3
Overlapped_tx_length : 3304
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75649185
Intersect_end : 75652489
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903047Gene_name : LOC124903047;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063511
Tx_version : 1
Tx_start : 125858877
Tx_end : 125861629
Exon_count : 2
Overlapped_tx_length : 2752
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125858877
Intersect_end : 125861629
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369750Gene_name : LOC105369750;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_001749115
Tx_version : 3
Tx_start : 48014102
Tx_end : 48031448
Exon_count : 3
Overlapped_tx_length : 17346
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48014102
Intersect_end : 48031448
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984537Gene_name : LOC107984537;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749238
Tx_version : 2
Tx_start : 85464731
Tx_end : 85469635
Exon_count : 3
Overlapped_tx_length : 4904
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85464731
Intersect_end : 85469635
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:85453624-85514323; chr12:85459992-85635487
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902996Gene_name : LOC124902996;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063422
Tx_version : 1
Tx_start : 101659713
Tx_end : 101664369
Exon_count : 3
Overlapped_tx_length : 4656
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101659713
Intersect_end : 101664369
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902966Gene_name : LOC124902966;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063368
Tx_version : 1
Tx_start : 73363070
Tx_end : 73365201
Exon_count : 2
Overlapped_tx_length : 2131
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 73363070
Intersect_end : 73365201
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369859Gene_name : LOC105369859;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_945130
Tx_version : 2
Tx_start : 78335568
Tx_end : 78352686
Exon_count : 3
Overlapped_tx_length : 17118
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 78335568
Intersect_end : 78352686
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:78277506-78376367
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100996701Gene_name : LOC100996701;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : XM_011539090
Tx_version : 2
Tx_start : 131663773
Tx_end : 131664548
Exon_count : 1
Overlapped_tx_length : 775
Overlapped_CDS_length : 645
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131663773
Intersect_end : 131664548
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369808Gene_name : LOC105369808;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_945035
Tx_version : 3
Tx_start : 65556911
Tx_end : 65560998
Exon_count : 4
Overlapped_tx_length : 4087
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65556911
Intersect_end : 65560998
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902911Gene_name : LOC124902911;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063264
Tx_version : 1
Tx_start : 30918506
Tx_end : 30926689
Exon_count : 2
Overlapped_tx_length : 8183
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 30918506
Intersect_end : 30926689
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105378258Gene_name : LOC105378258;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063492
Tx_version : 1
Tx_start : 121059289
Tx_end : 121092995
Exon_count : 4
Overlapped_tx_length : 33706
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121059289
Intersect_end : 121092995
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902987Gene_name : LOC124902987;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063410
Tx_version : 1
Tx_start : 94234474
Tx_end : 94237803
Exon_count : 2
Overlapped_tx_length : 3329
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94234474
Intersect_end : 94237803
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902921Gene_name : LOC124902921;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063280
Tx_version : 1
Tx_start : 42303154
Tx_end : 42306552
Exon_count : 2
Overlapped_tx_length : 3398
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42303154
Intersect_end : 42306552
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902989Gene_name : LOC124902989;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063412
Tx_version : 1
Tx_start : 94703734
Tx_end : 94712438
Exon_count : 2
Overlapped_tx_length : 8704
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94703734
Intersect_end : 94712438
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370062Gene_name : LOC105370062;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945515
Tx_version : 4
Tx_start : 127149954
Tx_end : 127182145
Exon_count : 4
Overlapped_tx_length : 32191
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127149954
Intersect_end : 127182145
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902928Gene_name : LOC124902928;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : 5'UTR-3'UTR
Tx : XM_047429953
Tx_version : 1
Tx_start : 48638309
Tx_end : 48643651
Exon_count : 1
Overlapped_tx_length : 5342
Overlapped_CDS_length : 1044
Overlapped_CDS_percent : 59
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48638309
Intersect_end : 48643651
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369755Gene_name : LOC105369755;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_944925
Tx_version : 3
Tx_start : 48851720
Tx_end : 48852549
Exon_count : 2
Overlapped_tx_length : 829
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48851720
Intersect_end : 48852549
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107987180Gene_name : LOC107987180;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749233
Tx_version : 2
Tx_start : 82504294
Tx_end : 82515814
Exon_count : 3
Overlapped_tx_length : 11520
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 82504294
Intersect_end : 82515814
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903066Gene_name : LOC124903066;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_007063554
Tx_version : 1
Tx_start : 84360657
Tx_end : 84361976
Exon_count : 2
Overlapped_tx_length : 1319
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 84360657
Intersect_end : 84361976
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:84259810-84466487
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369832Gene_name : LOC105369832;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749199
Tx_version : 1
Tx_start : 71277351
Tx_end : 71315369
Exon_count : 3
Overlapped_tx_length : 38018
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71277351
Intersect_end : 71315369
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927583Gene_name : LOC101927583;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : NR_120450
Tx_version : 1
Tx_start : 57618404
Tx_end : 57621903
Exon_count : 4
Overlapped_tx_length : 3499
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57618404
Intersect_end : 57621903
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369774Gene_name : LOC105369774;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_944973
Tx_version : 3
Tx_start : 53726578
Tx_end : 53731227
Exon_count : 3
Overlapped_tx_length : 4649
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53726578
Intersect_end : 53731227
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369844Gene_name : LOC105369844;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063375
Tx_version : 1
Tx_start : 75524260
Tx_end : 75834768
Exon_count : 16
Overlapped_tx_length : 310508
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75524260
Intersect_end : 75834768
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902948Gene_name : LOC124902948;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_007063336
Tx_version : 1
Tx_start : 57873840
Tx_end : 57890522
Exon_count : 2
Overlapped_tx_length : 16682
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57873840
Intersect_end : 57890522
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903078Gene_name : LOC124903078;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063585
Tx_version : 1
Tx_start : 108253897
Tx_end : 108264204
Exon_count : 2
Overlapped_tx_length : 10307
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108253897
Intersect_end : 108264204
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369767Gene_name : LOC105369767;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_944957
Tx_version : 3
Tx_start : 51322367
Tx_end : 51324008
Exon_count : 2
Overlapped_tx_length : 1641
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51322367
Intersect_end : 51324008
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370035Gene_name : LOC105370035;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_002957437
Tx_version : 2
Tx_start : 121856252
Tx_end : 121874337
Exon_count : 3
Overlapped_tx_length : 18085
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121856252
Intersect_end : 121874337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:121857434-121858686P_loss_coord : 12:121857434-121858686
P_loss_source : dbVar:nssv18830870
P_loss_phen : .
P_loss_hpo : .
6P_snvindel_nb : 6
P_snvindel_phen : Hawkinsinuria; Tyrosinemia_type_III
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC112268087Gene_name : LOC112268087;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_002957391
Tx_version : 2
Tx_start : 119939390
Tx_end : 119975197
Exon_count : 4
Overlapped_tx_length : 35807
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119939390
Intersect_end : 119975197
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370052Gene_name : LOC105370052;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_001749365
Tx_version : 2
Tx_start : 125061274
Tx_end : 125083153
Exon_count : 4
Overlapped_tx_length : 21879
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125061274
Intersect_end : 125083153
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370050Gene_name : LOC105370050;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945488
Tx_version : 3
Tx_start : 124864061
Tx_end : 124877577
Exon_count : 3
Overlapped_tx_length : 13516
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124864061
Intersect_end : 124877577
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900320Gene_name : LOC124900320;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063624
Tx_version : 1
Tx_start : 121107042
Tx_end : 121107174
Exon_count : 1
Overlapped_tx_length : 132
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121107042
Intersect_end : 121107174
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; dbVar; esv3630934B_loss_source : 1000g; dbVar; esv3630934
B_loss_coord : chr12:121063111-121157572; 12:121063112-121157572; 12:121063112-121157572
B_loss_AFmax : 0.1646
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902959Gene_name : LOC124902959;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_007063359
Tx_version : 1
Tx_start : 70063194
Tx_end : 70085135
Exon_count : 5
Overlapped_tx_length : 21941
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70063194
Intersect_end : 70085135
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:70046702-70181584
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC112267865Gene_name : LOC112267865;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_945279
Tx_version : 3
Tx_start : 102927878
Tx_end : 102950845
Exon_count : 5
Overlapped_tx_length : 22967
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102927878
Intersect_end : 102950845
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369846Gene_name : LOC105369846;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_001749215
Tx_version : 2
Tx_start : 75772691
Tx_end : 75781465
Exon_count : 3
Overlapped_tx_length : 8774
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75772691
Intersect_end : 75781465
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984505Gene_name : LOC107984505;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_001749144
Tx_version : 2
Tx_start : 50283620
Tx_end : 50296467
Exon_count : 2
Overlapped_tx_length : 12847
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 50283620
Intersect_end : 50296467
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370054Gene_name : LOC105370054;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945493
Tx_version : 3
Tx_start : 125272895
Tx_end : 125280816
Exon_count : 3
Overlapped_tx_length : 7921
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125272895
Intersect_end : 125280816
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370032Gene_name : LOC105370032;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_001749352
Tx_version : 3
Tx_start : 121125431
Tx_end : 121210072
Exon_count : 4
Overlapped_tx_length : 84641
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121125431
Intersect_end : 121210072
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370041Gene_name : LOC105370041;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063504
Tx_version : 1
Tx_start : 123613120
Tx_end : 123617762
Exon_count : 3
Overlapped_tx_length : 4642
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123613120
Intersect_end : 123617762
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903025Gene_name : LOC124903025;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_007063468
Tx_version : 1
Tx_start : 113861970
Tx_end : 113867643
Exon_count : 2
Overlapped_tx_length : 5673
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 113861970
Intersect_end : 113867643
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903022Gene_name : LOC124903022;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_007063465
Tx_version : 1
Tx_start : 112044652
Tx_end : 112056910
Exon_count : 2
Overlapped_tx_length : 12258
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112044652
Intersect_end : 112056910
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369850Gene_name : LOC105369850;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : NR_188081
Tx_version : 1
Tx_start : 76559901
Tx_end : 76615431
Exon_count : 4
Overlapped_tx_length : 55530
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76559901
Intersect_end : 76615431
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903108Gene_name : LOC124903108;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_007063645
Tx_version : 1
Tx_start : 100402144
Tx_end : 100402250
Exon_count : 1
Overlapped_tx_length : 106
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 100402144
Intersect_end : 100402250
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902915Gene_name : LOC124902915;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : XR_007063271
Tx_version : 1
Tx_start : 34054076
Tx_end : 34057180
Exon_count : 2
Overlapped_tx_length : 3104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 34054076
Intersect_end : 34057180
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dgv278e199; esv2761043B_loss_source : dgv278e199; esv2761043
B_loss_coord : 12:33141565-34701563; 12:34053811-34064107
B_loss_AFmax : 0.0400
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369797Gene_name : LOC105369797;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_945017
Tx_version : 2
Tx_start : 63545474
Tx_end : 63551553
Exon_count : 4
Overlapped_tx_length : 6079
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 63545474
Intersect_end : 63551553
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:63529497-63725471; chr12:63542220-63592220; chr12:63545378-63723455
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984487Gene_name : LOC107984487;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749145
Tx_version : 1
Tx_start : 82614227
Tx_end : 82626657
Exon_count : 3
Overlapped_tx_length : 12430
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 82614227
Intersect_end : 82626657
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369743Gene_name : LOC105369743;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_944886
Tx_version : 3
Tx_start : 45390691
Tx_end : 45568844
Exon_count : 7
Overlapped_tx_length : 178153
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 45390691
Intersect_end : 45568844
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : ANO6-related_condition; SCOTT_SYNDROME
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902976Gene_name : LOC124902976;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_007063391
Tx_version : 1
Tx_start : 84271290
Tx_end : 84294556
Exon_count : 2
Overlapped_tx_length : 23266
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 84271290
Intersect_end : 84294556
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:84204202-84297452; chr12:84259810-84466487
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902953Gene_name : LOC124902953;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063349
Tx_version : 1
Tx_start : 65164768
Tx_end : 65169416
Exon_count : 2
Overlapped_tx_length : 4648
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65164768
Intersect_end : 65169416
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369722Gene_name : LOC105369722;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_931497
Tx_version : 3
Tx_start : 31723788
Tx_end : 31728890
Exon_count : 3
Overlapped_tx_length : 5102
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31723788
Intersect_end : 31728890
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902958Gene_name : LOC124902958;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_007063355
Tx_version : 1
Tx_start : 67689028
Tx_end : 67694202
Exon_count : 2
Overlapped_tx_length : 5174
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67689028
Intersect_end : 67694202
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101929204Gene_name : LOC101929204;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063451
Tx_version : 1
Tx_start : 108802129
Tx_end : 108816345
Exon_count : 5
Overlapped_tx_length : 14216
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108802129
Intersect_end : 108816345
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369838Gene_name : LOC105369838;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_945088
Tx_version : 2
Tx_start : 72919909
Tx_end : 73042903
Exon_count : 7
Overlapped_tx_length : 122994
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 72919909
Intersect_end : 73042903
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369813Gene_name : LOC105369813;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_945047
Tx_version : 3
Tx_start : 67380980
Tx_end : 67388542
Exon_count : 3
Overlapped_tx_length : 7562
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67380980
Intersect_end : 67388542
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369777Gene_name : LOC105369777;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_944984
Tx_version : 2
Tx_start : 54189096
Tx_end : 54202333
Exon_count : 3
Overlapped_tx_length : 13237
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54189096
Intersect_end : 54202333
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984484Gene_name : LOC107984484;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_001749078
Tx_version : 1
Tx_start : 39058000
Tx_end : 39059928
Exon_count : 3
Overlapped_tx_length : 1928
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39058000
Intersect_end : 39059928
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903049Gene_name : LOC124903049;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063521
Tx_version : 1
Tx_start : 127206245
Tx_end : 127209956
Exon_count : 2
Overlapped_tx_length : 3711
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127206245
Intersect_end : 127209956
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902954Gene_name : LOC124902954;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063350
Tx_version : 1
Tx_start : 65358336
Tx_end : 65364590
Exon_count : 2
Overlapped_tx_length : 6254
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65358336
Intersect_end : 65364590
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369956Gene_name : LOC105369956;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945297
Tx_version : 3
Tx_start : 105426324
Tx_end : 105444214
Exon_count : 3
Overlapped_tx_length : 17890
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105426324
Intersect_end : 105444214
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902945Gene_name : LOC124902945;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : XR_007063333
Tx_version : 1
Tx_start : 56977084
Tx_end : 56995394
Exon_count : 4
Overlapped_tx_length : 18310
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56977084
Intersect_end : 56995394
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369187Gene_name : LOC105369187;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_135033
Tx_version : 1
Tx_start : 65544237
Tx_end : 65557311
Exon_count : 3
Overlapped_tx_length : 13074
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65544237
Intersect_end : 65557311
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369757Gene_name : LOC105369757;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_944929
Tx_version : 3
Tx_start : 48982356
Tx_end : 48987074
Exon_count : 3
Overlapped_tx_length : 4718
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48982356
Intersect_end : 48987074
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902956Gene_name : LOC124902956;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063353
Tx_version : 1
Tx_start : 66901119
Tx_end : 66923243
Exon_count : 2
Overlapped_tx_length : 22124
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66901119
Intersect_end : 66923243
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:66665062-66989826; chr12:66866426-67037930
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903038Gene_name : LOC124903038;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063499
Tx_version : 1
Tx_start : 121996472
Tx_end : 122005700
Exon_count : 2
Overlapped_tx_length : 9228
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121996472
Intersect_end : 122005700
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369795Gene_name : LOC105369795;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_945016
Tx_version : 3
Tx_start : 62840373
Tx_end : 62901026
Exon_count : 3
Overlapped_tx_length : 60653
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62840373
Intersect_end : 62901026
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900323Gene_name : LOC124900323;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063626
Tx_version : 1
Tx_start : 115852647
Tx_end : 115852718
Exon_count : 1
Overlapped_tx_length : 71
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115852647
Intersect_end : 115852718
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984468Gene_name : LOC107984468;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_007063330
Tx_version : 1
Tx_start : 56190691
Tx_end : 56195017
Exon_count : 2
Overlapped_tx_length : 4326
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56190691
Intersect_end : 56195017
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903114Gene_name : LOC124903114;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063649
Tx_version : 1
Tx_start : 120048429
Tx_end : 120048528
Exon_count : 1
Overlapped_tx_length : 99
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120048429
Intersect_end : 120048528
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:120042422-120050200
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369911Gene_name : LOC105369911;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_135017
Tx_version : 1
Tx_start : 93894964
Tx_end : 93943606
Exon_count : 3
Overlapped_tx_length : 48642
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93894964
Intersect_end : 93943606
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902999Gene_name : LOC124902999;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063428
Tx_version : 1
Tx_start : 102864420
Tx_end : 102904995
Exon_count : 3
Overlapped_tx_length : 40575
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 102864420
Intersect_end : 102904995
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:102865713-102871067; 12:102865714-10287106[...]P_loss_coord : 12:102865713-102871067; 12:102865714-102871066; 12:102866370-102868041; 12:102866371-102868040; 12:102866577-102866683; 12:102866587-102866673; 12:102866595-102866663; 12:102894726-102894931; 12:102894736-102894918
P_loss_source : CLN:1053684; CLN:1053685; CLN:108417; dbVar:nssv15130213; dbVar:nssv15222951; dbVar:nssv16212451; dbVar:nssv16213855; dbVar:nssv17059592; dbVar:nssv17059610
P_loss_phen : Phenylketonuria; |Phenylketonuria
P_loss_hpo : .
99P_snvindel_nb : 99
P_snvindel_phen : 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency; Hyperphenylalaninemia; Inborn_genetic_diseases; PAH-related_condition; Phenylketonuria; See_cases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370030Gene_name : LOC105370030;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063494
Tx_version : 1
Tx_start : 121111954
Tx_end : 121119706
Exon_count : 3
Overlapped_tx_length : 7752
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 121111954
Intersect_end : 121119706
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; dbVar; esv3630934B_loss_source : 1000g; dbVar; esv3630934
B_loss_coord : chr12:121063111-121157572; 12:121063112-121157572; 12:121063112-121157572
B_loss_AFmax : 0.1646
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902977Gene_name : LOC124902977;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_007063393
Tx_version : 1
Tx_start : 88054500
Tx_end : 88082376
Exon_count : 3
Overlapped_tx_length : 27876
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88054500
Intersect_end : 88082376
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:88058839-88060030; 12:88071275-88071946; 1[...]P_loss_coord : 12:88058839-88060030; 12:88071275-88071946; 12:88077213-88079239
P_loss_source : dbVar:nssv17968931; dbVar:nssv17968972; dbVar:nssv18787737
P_loss_phen : .
P_loss_hpo : .
113P_snvindel_nb : 113
P_snvindel_phen : Abnormality_of_the_kidney; Abnormality_of_the_nervous_system; Bardet-Biedl_syndrome_14; CEP290-Related_Disorders; CEP290-related_ciliopathy; CEP290-related_condition; COG7_congenital_disorder_of_glycosylation; Cerebellar_cyst; Cerebellar_vermis_hypoplasia; Congenital_blindness; Encephalocele; Familial_aplasia_of_the_vermis; Hyperechogenic_kidneys; Inborn_genetic_diseases; Intellectual_disability; Joubert_syndrome_1; Joubert_syndrome_5; Kidney_disorder; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Meckel_syndrome,_type_6; Nephronophthisis; Polycystic_kidney_disease; Retinal_dystrophy; Retinitis_pigmentosa; See_cases; Senior-Loken_syndrome_6; Severe_hydrocephalus
dbVarB_loss_source : dbVar
B_loss_coord : chr12:88027812-88118905
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902941Gene_name : LOC124902941;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_007063325
Tx_version : 1
Tx_start : 55913825
Tx_end : 55923771
Exon_count : 2
Overlapped_tx_length : 9946
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55913825
Intersect_end : 55923771
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370019Gene_name : LOC105370019;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945423
Tx_version : 3
Tx_start : 118871453
Tx_end : 118920284
Exon_count : 5
Overlapped_tx_length : 48831
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118871453
Intersect_end : 118920284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927786Gene_name : LOC101927786;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_242978
Tx_version : 5
Tx_start : 130332192
Tx_end : 130336240
Exon_count : 3
Overlapped_tx_length : 4048
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130332192
Intersect_end : 130336240
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:130321603-130337847
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902974Gene_name : LOC124902974;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063387
Tx_version : 1
Tx_start : 79823780
Tx_end : 79825198
Exon_count : 2
Overlapped_tx_length : 1418
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79823780
Intersect_end : 79825198
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984469Gene_name : LOC107984469;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063272
Tx_version : 1
Tx_start : 38138489
Tx_end : 38142651
Exon_count : 2
Overlapped_tx_length : 4162
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 38138489
Intersect_end : 38142651
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370026Gene_name : LOC105370026;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945438
Tx_version : 3
Tx_start : 119210684
Tx_end : 119221131
Exon_count : 3
Overlapped_tx_length : 10447
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119210684
Intersect_end : 119221131
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100996671Gene_name : LOC100996671;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_110034
Tx_version : 2
Tx_start : 126652945
Tx_end : 126690318
Exon_count : 3
Overlapped_tx_length : 37373
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126652945
Intersect_end : 126690318
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902973Gene_name : LOC124902973;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063386
Tx_version : 1
Tx_start : 79146133
Tx_end : 79172968
Exon_count : 2
Overlapped_tx_length : 26835
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 79146133
Intersect_end : 79172968
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369927Gene_name : LOC105369927;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_945249
Tx_version : 3
Tx_start : 97194032
Tx_end : 97229910
Exon_count : 3
Overlapped_tx_length : 35878
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97194032
Intersect_end : 97229910
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370067Gene_name : LOC105370067;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945528
Tx_version : 4
Tx_start : 127484527
Tx_end : 127509066
Exon_count : 4
Overlapped_tx_length : 24539
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127484527
Intersect_end : 127509066
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:127332858-127525302
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902937Gene_name : LOC124902937;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063316
Tx_version : 1
Tx_start : 53535365
Tx_end : 53586077
Exon_count : 3
Overlapped_tx_length : 50712
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53535365
Intersect_end : 53586077
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903085Gene_name : LOC124903085;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063609
Tx_version : 1
Tx_start : 129850913
Tx_end : 129860652
Exon_count : 3
Overlapped_tx_length : 9739
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129850913
Intersect_end : 129860652
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984440Gene_name : LOC107984440;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063482
Tx_version : 1
Tx_start : 119181166
Tx_end : 119184095
Exon_count : 3
Overlapped_tx_length : 2929
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119181166
Intersect_end : 119184095
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927484Gene_name : LOC101927484;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_245987
Tx_version : 4
Tx_start : 55023487
Tx_end : 55035756
Exon_count : 5
Overlapped_tx_length : 12269
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55023487
Intersect_end : 55035756
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903046Gene_name : LOC124903046;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063510
Tx_version : 1
Tx_start : 124786762
Tx_end : 124791284
Exon_count : 2
Overlapped_tx_length : 4522
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124786762
Intersect_end : 124791284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369726Gene_name : LOC105369726;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : XR_931504
Tx_version : 3
Tx_start : 33685956
Tx_end : 33691866
Exon_count : 3
Overlapped_tx_length : 5910
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 33685956
Intersect_end : 33691866
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; esv2761043B_loss_source : dbVar; esv2761043
B_loss_coord : 12:33141565-34701563; chr12:33417792-33710501; chr12:33419959-33704145
B_loss_AFmax : 0.0400
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903033Gene_name : LOC124903033;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063485
Tx_version : 1
Tx_start : 119674399
Tx_end : 119685486
Exon_count : 2
Overlapped_tx_length : 11087
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119674399
Intersect_end : 119685486
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369946Gene_name : LOC105369946;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_188417
Tx_version : 1
Tx_start : 103667205
Tx_end : 103670410
Exon_count : 3
Overlapped_tx_length : 3205
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103667205
Intersect_end : 103670410
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107987176Gene_name : LOC107987176;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_001749176
Tx_version : 1
Tx_start : 128262946
Tx_end : 128267032
Exon_count : 2
Overlapped_tx_length : 4086
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128262946
Intersect_end : 128267032
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902946Gene_name : LOC124902946;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : XR_007063334
Tx_version : 1
Tx_start : 57110721
Tx_end : 57112879
Exon_count : 2
Overlapped_tx_length : 2158
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57110721
Intersect_end : 57112879
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369957Gene_name : LOC105369957;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945302
Tx_version : 3
Tx_start : 105372113
Tx_end : 105412882
Exon_count : 3
Overlapped_tx_length : 40769
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105372113
Intersect_end : 105412882
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984435Gene_name : LOC107984435;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_001749305
Tx_version : 2
Tx_start : 105741776
Tx_end : 105766898
Exon_count : 4
Overlapped_tx_length : 25122
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105741776
Intersect_end : 105766898
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101929967Gene_name : LOC101929967;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_945096
Tx_version : 2
Tx_start : 74612393
Tx_end : 74621059
Exon_count : 3
Overlapped_tx_length : 8666
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74612393
Intersect_end : 74621059
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369851Gene_name : LOC105369851;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_945115
Tx_version : 3
Tx_start : 76636118
Tx_end : 76664968
Exon_count : 2
Overlapped_tx_length : 28850
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76636118
Intersect_end : 76664968
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:76634939-76701586
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369756Gene_name : LOC105369756;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_944926
Tx_version : 1
Tx_start : 48987780
Tx_end : 48988743
Exon_count : 3
Overlapped_tx_length : 963
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48987780
Intersect_end : 48988743
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903043Gene_name : LOC124903043;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063505
Tx_version : 1
Tx_start : 123922597
Tx_end : 123925017
Exon_count : 2
Overlapped_tx_length : 2420
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123922597
Intersect_end : 123925017
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369958Gene_name : LOC105369958;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_001749300
Tx_version : 2
Tx_start : 105489701
Tx_end : 105550035
Exon_count : 7
Overlapped_tx_length : 60334
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105489701
Intersect_end : 105550035
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902927Gene_name : LOC124902927;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063293
Tx_version : 1
Tx_start : 48019770
Tx_end : 48022175
Exon_count : 2
Overlapped_tx_length : 2405
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48019770
Intersect_end : 48022175
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:48018732-48026046
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902985Gene_name : LOC124902985;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063408
Tx_version : 1
Tx_start : 93533172
Tx_end : 93537607
Exon_count : 2
Overlapped_tx_length : 4435
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93533172
Intersect_end : 93537607
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984525Gene_name : LOC107984525;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_002957415
Tx_version : 2
Tx_start : 53769714
Tx_end : 53898384
Exon_count : 4
Overlapped_tx_length : 128670
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53769714
Intersect_end : 53898384
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370011Gene_name : LOC105370011;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945403
Tx_version : 3
Tx_start : 117832765
Tx_end : 117843778
Exon_count : 3
Overlapped_tx_length : 11013
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117832765
Intersect_end : 117843778
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:117826187-117844038
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369923Gene_name : LOC105369923;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_945238
Tx_version : 2
Tx_start : 96096042
Tx_end : 96108616
Exon_count : 3
Overlapped_tx_length : 12574
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96096042
Intersect_end : 96108616
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369880Gene_name : LOC105369880;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_945160
Tx_version : 2
Tx_start : 87429151
Tx_end : 87440601
Exon_count : 3
Overlapped_tx_length : 11450
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87429151
Intersect_end : 87440601
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100240734Gene_name : LOC100240734;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : NR_026657
Tx_version : 1
Tx_start : 54102208
Tx_end : 54102699
Exon_count : 1
Overlapped_tx_length : 491
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54102208
Intersect_end : 54102699
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903055Gene_name : LOC124903055;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063528
Tx_version : 1
Tx_start : 131310025
Tx_end : 131312811
Exon_count : 2
Overlapped_tx_length : 2786
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131310025
Intersect_end : 131312811
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; dbVar; dgv29e203
B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210
B_loss_AFmax : 0.0120
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902986Gene_name : LOC124902986;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063409
Tx_version : 1
Tx_start : 94101612
Tx_end : 94126470
Exon_count : 2
Overlapped_tx_length : 24858
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94101612
Intersect_end : 94126470
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903074Gene_name : LOC124903074;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063578
Tx_version : 1
Tx_start : 90809206
Tx_end : 90810680
Exon_count : 2
Overlapped_tx_length : 1474
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 90809206
Intersect_end : 90810680
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272; chr12:90671856-90815959; chr12:90806642-90813349
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903044Gene_name : LOC124903044;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063508
Tx_version : 1
Tx_start : 124423311
Tx_end : 124424587
Exon_count : 2
Overlapped_tx_length : 1276
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124423311
Intersect_end : 124424587
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100505978Gene_name : LOC100505978;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_038912
Tx_version : 1
Tx_start : 106680757
Tx_end : 106684700
Exon_count : 4
Overlapped_tx_length : 3943
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106680757
Intersect_end : 106684700
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902943Gene_name : LOC124902943;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_007063328
Tx_version : 1
Tx_start : 56143107
Tx_end : 56153873
Exon_count : 2
Overlapped_tx_length : 10766
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56143107
Intersect_end : 56153873
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902930Gene_name : LOC124902930;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063302
Tx_version : 1
Tx_start : 49930823
Tx_end : 49945707
Exon_count : 2
Overlapped_tx_length : 14884
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49930823
Intersect_end : 49945707
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984510Gene_name : LOC107984510;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_001749148
Tx_version : 3
Tx_start : 52048604
Tx_end : 52051154
Exon_count : 2
Overlapped_tx_length : 2550
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52048604
Intersect_end : 52051154
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903101Gene_name : LOC124903101;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.2
Location2 : UTR
Tx : XR_007063638
Tx_version : 1
Tx_start : 64355761
Tx_end : 64355865
Exon_count : 1
Overlapped_tx_length : 104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 64355761
Intersect_end : 64355865
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:64352437-64356056
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903013Gene_name : LOC124903013;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063456
Tx_version : 1
Tx_start : 109973436
Tx_end : 109982526
Exon_count : 3
Overlapped_tx_length : 9090
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109973436
Intersect_end : 109982526
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902923Gene_name : LOC124902923;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063284
Tx_version : 1
Tx_start : 46430231
Tx_end : 46494470
Exon_count : 2
Overlapped_tx_length : 64239
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 46430231
Intersect_end : 46494470
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902936Gene_name : LOC124902936;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063315
Tx_version : 1
Tx_start : 53106631
Tx_end : 53115531
Exon_count : 3
Overlapped_tx_length : 8900
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53106631
Intersect_end : 53115531
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517066B_loss_source : nsv517066
B_loss_coord : 12:53006395-53340722
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369974Gene_name : LOC105369974;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_945332
Tx_version : 3
Tx_start : 109118653
Tx_end : 109131842
Exon_count : 3
Overlapped_tx_length : 13189
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109118653
Intersect_end : 109131842
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984515Gene_name : LOC107984515;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_001749161
Tx_version : 2
Tx_start : 54984850
Tx_end : 55005880
Exon_count : 2
Overlapped_tx_length : 21030
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 54984850
Intersect_end : 55005880
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984480Gene_name : LOC107984480;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_001749179
Tx_version : 1
Tx_start : 130316209
Tx_end : 130317397
Exon_count : 3
Overlapped_tx_length : 1188
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130316209
Intersect_end : 130317397
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903091Gene_name : LOC124903091;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063617
Tx_version : 1
Tx_start : 31366263
Tx_end : 31366366
Exon_count : 1
Overlapped_tx_length : 103
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31366263
Intersect_end : 31366366
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:38281B_loss_source : DDD:38281
B_loss_coord : 12:31364310-31366860
B_loss_AFmax : 0.0312
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369781Gene_name : LOC105369781;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : NR_135023
Tx_version : 1
Tx_start : 56010091
Tx_end : 56025091
Exon_count : 3
Overlapped_tx_length : 15000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56010091
Intersect_end : 56025091
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902957Gene_name : LOC124902957;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_007063354
Tx_version : 1
Tx_start : 67328520
Tx_end : 67352680
Exon_count : 2
Overlapped_tx_length : 24160
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67328520
Intersect_end : 67352680
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:67262967-67357107
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370069Gene_name : LOC105370069;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945530
Tx_version : 3
Tx_start : 127719092
Tx_end : 127721711
Exon_count : 3
Overlapped_tx_length : 2619
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127719092
Intersect_end : 127721711
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC643339Gene_name : LOC643339;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : NR_040096
Tx_version : 1
Tx_start : 93003757
Tx_end : 93377736
Exon_count : 5
Overlapped_tx_length : 373979
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93003757
Intersect_end : 93377736
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101593348Gene_name : LOC101593348;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_103497
Tx_version : 1
Tx_start : 122226441
Tx_end : 122228792
Exon_count : 1
Overlapped_tx_length : 2351
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122226441
Intersect_end : 122228792
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370020Gene_name : LOC105370020;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945428
Tx_version : 4
Tx_start : 118945770
Tx_end : 118956188
Exon_count : 3
Overlapped_tx_length : 10418
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118945770
Intersect_end : 118956188
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900328Gene_name : LOC124900328;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063631
Tx_version : 1
Tx_start : 118888433
Tx_end : 118888564
Exon_count : 1
Overlapped_tx_length : 131
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118888433
Intersect_end : 118888564
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369913Gene_name : LOC105369913;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945223
Tx_version : 3
Tx_start : 94038508
Tx_end : 94048038
Exon_count : 4
Overlapped_tx_length : 9530
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94038508
Intersect_end : 94048038
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903035Gene_name : LOC124903035;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063488
Tx_version : 1
Tx_start : 120701810
Tx_end : 120706500
Exon_count : 2
Overlapped_tx_length : 4690
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120701810
Intersect_end : 120706500
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903073Gene_name : LOC124903073;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_007063576
Tx_version : 1
Tx_start : 85705964
Tx_end : 85712868
Exon_count : 2
Overlapped_tx_length : 6904
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 85705964
Intersect_end : 85712868
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:85691426-85715757
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369724Gene_name : LOC105369724;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_001749077
Tx_version : 2
Tx_start : 31749132
Tx_end : 31757101
Exon_count : 3
Overlapped_tx_length : 7969
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31749132
Intersect_end : 31757101
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:31747329-31761702; chr12:31747455-31761796; chr12:31747566-31762066
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903054Gene_name : LOC124903054;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063527
Tx_version : 1
Tx_start : 130970175
Tx_end : 130971458
Exon_count : 2
Overlapped_tx_length : 1283
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130970175
Intersect_end : 130971458
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903102Gene_name : LOC124903102;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063639
Tx_version : 1
Tx_start : 93265628
Tx_end : 93265732
Exon_count : 1
Overlapped_tx_length : 104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93265628
Intersect_end : 93265732
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272; chr12:93254533-93266545; chr12:93265068-93270032; chr12:93265224-93270224
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369949Gene_name : LOC105369949;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063432
Tx_version : 1
Tx_start : 104377118
Tx_end : 104398599
Exon_count : 4
Overlapped_tx_length : 21481
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104377118
Intersect_end : 104398599
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903082Gene_name : LOC124903082;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063592
Tx_version : 1
Tx_start : 115299587
Tx_end : 115355038
Exon_count : 11
Overlapped_tx_length : 55451
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115299587
Intersect_end : 115355038
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902975Gene_name : LOC124902975;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_007063389
Tx_version : 1
Tx_start : 80497231
Tx_end : 80513483
Exon_count : 3
Overlapped_tx_length : 16252
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 80497231
Intersect_end : 80513483
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369775Gene_name : LOC105369775;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_944977
Tx_version : 2
Tx_start : 53953384
Tx_end : 53956427
Exon_count : 3
Overlapped_tx_length : 3043
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53953384
Intersect_end : 53956427
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902938Gene_name : LOC124902938;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063318
Tx_version : 1
Tx_start : 53641554
Tx_end : 53642938
Exon_count : 2
Overlapped_tx_length : 1384
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53641554
Intersect_end : 53642938
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
XLOC_009911Gene_name : XLOC_009911;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : NR_131215
Tx_version : 1
Tx_start : 120904694
Tx_end : 120908074
Exon_count : 2
Overlapped_tx_length : 3380
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120904694
Intersect_end : 120908074
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:120793274-120914076
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903099Gene_name : LOC124903099;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063627
Tx_version : 1
Tx_start : 110496351
Tx_end : 110496421
Exon_count : 1
Overlapped_tx_length : 70
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110496351
Intersect_end : 110496421
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369933Gene_name : LOC105369933;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_945258
Tx_version : 3
Tx_start : 98337658
Tx_end : 98350717
Exon_count : 4
Overlapped_tx_length : 13059
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98337658
Intersect_end : 98350717
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370071Gene_name : LOC105370071;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945534
Tx_version : 2
Tx_start : 128072253
Tx_end : 128074306
Exon_count : 3
Overlapped_tx_length : 2053
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128072253
Intersect_end : 128074306
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902920Gene_name : LOC124902920;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063279
Tx_version : 1
Tx_start : 42238444
Tx_end : 42239278
Exon_count : 2
Overlapped_tx_length : 834
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 42238444
Intersect_end : 42239278
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903008Gene_name : LOC124903008;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063443
Tx_version : 1
Tx_start : 106248271
Tx_end : 106252787
Exon_count : 2
Overlapped_tx_length : 4516
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 106248271
Intersect_end : 106252787
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903034Gene_name : LOC124903034;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_007063486
Tx_version : 1
Tx_start : 120220090
Tx_end : 120225421
Exon_count : 2
Overlapped_tx_length : 5331
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 120220090
Intersect_end : 120225421
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369783Gene_name : LOC105369783;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_188077
Tx_version : 1
Tx_start : 57837090
Tx_end : 57843761
Exon_count : 2
Overlapped_tx_length : 6671
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57837090
Intersect_end : 57843761
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369809Gene_name : LOC105369809;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_945036
Tx_version : 3
Tx_start : 65474459
Tx_end : 65488247
Exon_count : 2
Overlapped_tx_length : 13788
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65474459
Intersect_end : 65488247
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370061Gene_name : LOC105370061;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063516
Tx_version : 1
Tx_start : 126874803
Tx_end : 126888718
Exon_count : 4
Overlapped_tx_length : 13915
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126874803
Intersect_end : 126888718
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126839969-126935623
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902961Gene_name : LOC124902961;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063363
Tx_version : 1
Tx_start : 71110215
Tx_end : 71118585
Exon_count : 2
Overlapped_tx_length : 8370
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71110215
Intersect_end : 71118585
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:71094870-71124947; chr12:71103220-71123220
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984472Gene_name : LOC107984472;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_001749170
Tx_version : 1
Tx_start : 118818208
Tx_end : 118834639
Exon_count : 3
Overlapped_tx_length : 16431
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118818208
Intersect_end : 118834639
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:118796546-118852767; chr12:118796655-118852819
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902955Gene_name : LOC124902955;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063351
Tx_version : 1
Tx_start : 65939925
Tx_end : 65948707
Exon_count : 2
Overlapped_tx_length : 8782
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 65939925
Intersect_end : 65948707
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df
B_loss_coord : chr12:65256321-66057593
B_loss_AFmax : 0.9999
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903105Gene_name : LOC124903105;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063642
Tx_version : 1
Tx_start : 101789814
Tx_end : 101789915
Exon_count : 1
Overlapped_tx_length : 101
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101789814
Intersect_end : 101789915
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369995Gene_name : LOC105369995;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : NR_188422
Tx_version : 1
Tx_start : 114077117
Tx_end : 114113490
Exon_count : 5
Overlapped_tx_length : 36373
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114077117
Intersect_end : 114113490
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
FLJ13224Gene_name : FLJ13224;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : NR_026806
Tx_version : 1
Tx_start : 31324315
Tx_end : 31325945
Exon_count : 1
Overlapped_tx_length : 1630
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31324315
Intersect_end : 31325945
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902997Gene_name : LOC124902997;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063424
Tx_version : 1
Tx_start : 101743989
Tx_end : 101744967
Exon_count : 2
Overlapped_tx_length : 978
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101743989
Intersect_end : 101744967
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903090Gene_name : LOC124903090;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : 5'UTR-3'UTR
Tx : XM_047429977
Tx_version : 1
Tx_start : 131428499
Tx_end : 131440387
Exon_count : 2
Overlapped_tx_length : 11888
Overlapped_CDS_length : 1554
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131428499
Intersect_end : 131440387
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:131411961-131467758; chr12:131415455-131474455
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984548Gene_name : LOC107984548;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_001749284
Tx_version : 2
Tx_start : 101955435
Tx_end : 101964237
Exon_count : 3
Overlapped_tx_length : 8802
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101955435
Intersect_end : 101964237
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369863Gene_name : LOC105369863;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063384
Tx_version : 1
Tx_start : 78905023
Tx_end : 79102879
Exon_count : 5
Overlapped_tx_length : 197856
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 78905023
Intersect_end : 79102879
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369819Gene_name : LOC105369819;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_945057
Tx_version : 3
Tx_start : 68332630
Tx_end : 68337188
Exon_count : 3
Overlapped_tx_length : 4558
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68332630
Intersect_end : 68337188
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370073Gene_name : LOC105370073;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_945538
Tx_version : 3
Tx_start : 129021692
Tx_end : 129029026
Exon_count : 3
Overlapped_tx_length : 7334
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129021692
Intersect_end : 129029026
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:129018473-129030314; chr12:129018532-129030373
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC128125814Gene_name : LOC128125814;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : 5'UTR-3'UTR
Tx : NM_001414991
Tx_version : 1
Tx_start : 57517711
Tx_end : 57520480
Exon_count : 2
Overlapped_tx_length : 2769
Overlapped_CDS_length : 105
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57517711
Intersect_end : 57520480
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369787Gene_name : LOC105369787;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : 5'UTR-3'UTR
Tx : XM_047429956
Tx_version : 1
Tx_start : 58328380
Tx_end : 58337040
Exon_count : 3
Overlapped_tx_length : 8660
Overlapped_CDS_length : 2097
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58328380
Intersect_end : 58337040
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370022Gene_name : LOC105370022;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945431
Tx_version : 3
Tx_start : 119031037
Tx_end : 119052187
Exon_count : 3
Overlapped_tx_length : 21150
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119031037
Intersect_end : 119052187
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900330Gene_name : LOC124900330;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.3
Location2 : UTR
Tx : XR_007063633
Tx_version : 1
Tx_start : 56861374
Tx_end : 56861508
Exon_count : 1
Overlapped_tx_length : 134
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56861374
Intersect_end : 56861508
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903002Gene_name : LOC124903002;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063431
Tx_version : 1
Tx_start : 104262311
Tx_end : 104280843
Exon_count : 2
Overlapped_tx_length : 18532
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104262311
Intersect_end : 104280843
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902969Gene_name : LOC124902969;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063378
Tx_version : 1
Tx_start : 75966251
Tx_end : 75967062
Exon_count : 2
Overlapped_tx_length : 811
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75966251
Intersect_end : 75967062
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370076Gene_name : LOC105370076;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_945543
Tx_version : 3
Tx_start : 129957582
Tx_end : 129975790
Exon_count : 4
Overlapped_tx_length : 18208
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129957582
Intersect_end : 129975790
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370068Gene_name : LOC105370068;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : NR_134995
Tx_version : 1
Tx_start : 127648895
Tx_end : 127655588
Exon_count : 4
Overlapped_tx_length : 6693
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127648895
Intersect_end : 127655588
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903056Gene_name : LOC124903056;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063534
Tx_version : 1
Tx_start : 131534810
Tx_end : 131558230
Exon_count : 2
Overlapped_tx_length : 23420
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131534810
Intersect_end : 131558230
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:131476654-131611967
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369843Gene_name : LOC105369843;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_945100
Tx_version : 4
Tx_start : 75016187
Tx_end : 75025839
Exon_count : 4
Overlapped_tx_length : 9652
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75016187
Intersect_end : 75025839
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:75014415-75026807
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370086Gene_name : LOC105370086;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_945568
Tx_version : 3
Tx_start : 131659472
Tx_end : 131661648
Exon_count : 3
Overlapped_tx_length : 2176
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131659472
Intersect_end : 131661648
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927608Gene_name : LOC101927608;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_187681
Tx_version : 1
Tx_start : 57894238
Tx_end : 57896832
Exon_count : 2
Overlapped_tx_length : 2594
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 57894238
Intersect_end : 57896832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369736Gene_name : LOC105369736;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_944868
Tx_version : 3
Tx_start : 40354751
Tx_end : 40443896
Exon_count : 6
Overlapped_tx_length : 89145
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40354751
Intersect_end : 40443896
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984498Gene_name : LOC107984498;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_001749090
Tx_version : 2
Tx_start : 41555669
Tx_end : 41566306
Exon_count : 3
Overlapped_tx_length : 10637
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41555669
Intersect_end : 41566306
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903116Gene_name : LOC124903116;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063650
Tx_version : 1
Tx_start : 93350615
Tx_end : 93350716
Exon_count : 1
Overlapped_tx_length : 101
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93350615
Intersect_end : 93350716
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369853Gene_name : LOC105369853;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_945118
Tx_version : 2
Tx_start : 77122406
Tx_end : 77152104
Exon_count : 5
Overlapped_tx_length : 29698
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 77122406
Intersect_end : 77152104
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903053Gene_name : LOC124903053;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063526
Tx_version : 1
Tx_start : 130852951
Tx_end : 130856601
Exon_count : 2
Overlapped_tx_length : 3650
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130852951
Intersect_end : 130856601
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903024Gene_name : LOC124903024;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_007063467
Tx_version : 1
Tx_start : 112489183
Tx_end : 112491424
Exon_count : 2
Overlapped_tx_length : 2241
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112489183
Intersect_end : 112491424
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105378250Gene_name : LOC105378250;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_944976
Tx_version : 3
Tx_start : 53757299
Tx_end : 53762272
Exon_count : 2
Overlapped_tx_length : 4973
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 53757299
Intersect_end : 53762272
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369761Gene_name : LOC105369761;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063298
Tx_version : 1
Tx_start : 49550280
Tx_end : 49553199
Exon_count : 3
Overlapped_tx_length : 2919
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49550280
Intersect_end : 49553199
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370018Gene_name : LOC105370018;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945422
Tx_version : 3
Tx_start : 118837488
Tx_end : 118868033
Exon_count : 8
Overlapped_tx_length : 30545
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118837488
Intersect_end : 118868033
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101927019Gene_name : LOC101927019;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063276
Tx_version : 1
Tx_start : 39315931
Tx_end : 39328147
Exon_count : 3
Overlapped_tx_length : 12216
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39315931
Intersect_end : 39328147
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39263851-39363195
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903042Gene_name : LOC124903042;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063503
Tx_version : 1
Tx_start : 123575891
Tx_end : 123578867
Exon_count : 2
Overlapped_tx_length : 2976
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123575891
Intersect_end : 123578867
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370002Gene_name : LOC105370002;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : NR_188486
Tx_version : 1
Tx_start : 115581543
Tx_end : 115641136
Exon_count : 6
Overlapped_tx_length : 59593
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115581543
Intersect_end : 115641136
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902967Gene_name : LOC124902967;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063370
Tx_version : 1
Tx_start : 74401972
Tx_end : 74402532
Exon_count : 2
Overlapped_tx_length : 560
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74401972
Intersect_end : 74402532
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:74313321-74501443
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370024Gene_name : LOC105370024;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_134996
Tx_version : 1
Tx_start : 119174064
Tx_end : 119176484
Exon_count : 2
Overlapped_tx_length : 2420
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119174064
Intersect_end : 119176484
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369879Gene_name : LOC105369879;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : NR_135020
Tx_version : 1
Tx_start : 87330738
Tx_end : 87332321
Exon_count : 2
Overlapped_tx_length : 1583
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87330738
Intersect_end : 87332321
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903017Gene_name : LOC124903017;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063460
Tx_version : 1
Tx_start : 110662670
Tx_end : 110672923
Exon_count : 2
Overlapped_tx_length : 10253
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110662670
Intersect_end : 110672923
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903088Gene_name : LOC124903088;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063615
Tx_version : 1
Tx_start : 130133381
Tx_end : 130140832
Exon_count : 2
Overlapped_tx_length : 7451
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130133381
Intersect_end : 130140832
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902971Gene_name : LOC124902971;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063380
Tx_version : 1
Tx_start : 76878358
Tx_end : 76881465
Exon_count : 2
Overlapped_tx_length : 3107
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76878358
Intersect_end : 76881465
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903087Gene_name : LOC124903087;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063614
Tx_version : 1
Tx_start : 130018138
Tx_end : 130018995
Exon_count : 2
Overlapped_tx_length : 857
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130018138
Intersect_end : 130018995
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369960Gene_name : LOC105369960;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945310
Tx_version : 3
Tx_start : 105783922
Tx_end : 105787444
Exon_count : 3
Overlapped_tx_length : 3522
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105783922
Intersect_end : 105787444
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370021Gene_name : LOC105370021;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_945429
Tx_version : 3
Tx_start : 119110876
Tx_end : 119124970
Exon_count : 3
Overlapped_tx_length : 14094
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119110876
Intersect_end : 119124970
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369818Gene_name : LOC105369818;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_001749193
Tx_version : 2
Tx_start : 68182904
Tx_end : 68201353
Exon_count : 3
Overlapped_tx_length : 18449
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68182904
Intersect_end : 68201353
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369937Gene_name : LOC105369937;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_188371
Tx_version : 1
Tx_start : 101646719
Tx_end : 101650871
Exon_count : 2
Overlapped_tx_length : 4152
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101646719
Intersect_end : 101650871
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902979Gene_name : LOC124902979;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_007063398
Tx_version : 1
Tx_start : 88559316
Tx_end : 88565392
Exon_count : 2
Overlapped_tx_length : 6076
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88559316
Intersect_end : 88565392
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369812Gene_name : LOC105369812;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_001749186
Tx_version : 2
Tx_start : 67394383
Tx_end : 67480694
Exon_count : 5
Overlapped_tx_length : 86311
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67394383
Intersect_end : 67480694
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101928912Gene_name : LOC101928912;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_246024
Tx_version : 4
Tx_start : 97230209
Tx_end : 97257412
Exon_count : 3
Overlapped_tx_length : 27203
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97230209
Intersect_end : 97257412
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903103Gene_name : LOC124903103;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_007063640
Tx_version : 1
Tx_start : 62651174
Tx_end : 62651278
Exon_count : 1
Overlapped_tx_length : 104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62651174
Intersect_end : 62651278
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903023Gene_name : LOC124903023;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.13
Location2 : UTR
Tx : XR_007063466
Tx_version : 1
Tx_start : 112457749
Tx_end : 112470245
Exon_count : 3
Overlapped_tx_length : 12496
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 112457749
Intersect_end : 112470245
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369877Gene_name : LOC105369877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749240
Tx_version : 2
Tx_start : 86262012
Tx_end : 86272264
Exon_count : 3
Overlapped_tx_length : 10252
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 86262012
Intersect_end : 86272264
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370027Gene_name : LOC105370027;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : NR_188490
Tx_version : 1
Tx_start : 119387986
Tx_end : 119668127
Exon_count : 4
Overlapped_tx_length : 280141
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 119387986
Intersect_end : 119668127
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369752Gene_name : LOC105369752;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_944910
Tx_version : 2
Tx_start : 47980646
Tx_end : 47982875
Exon_count : 4
Overlapped_tx_length : 2229
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47980646
Intersect_end : 47982875
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
37P_snvindel_nb : 37
P_snvindel_phen : Achondrogenesis_type_II; Connective_tissue_disorder; Inborn_genetic_diseases; Stickler_syndrome_type_1; Type_2_collagenopathy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370003Gene_name : LOC105370003;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_945389
Tx_version : 3
Tx_start : 115373510
Tx_end : 115763065
Exon_count : 4
Overlapped_tx_length : 389555
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115373510
Intersect_end : 115763065
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900333Gene_name : LOC124900333;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063635
Tx_version : 1
Tx_start : 108778143
Tx_end : 108778271
Exon_count : 1
Overlapped_tx_length : 128
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108778143
Intersect_end : 108778271
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902942Gene_name : LOC124902942;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : 5'UTR-3'UTR
Tx : XM_047429954
Tx_version : 1
Tx_start : 56151826
Tx_end : 56153897
Exon_count : 3
Overlapped_tx_length : 2071
Overlapped_CDS_length : 315
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56151826
Intersect_end : 56153897
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902912Gene_name : LOC124902912;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063265
Tx_version : 1
Tx_start : 31117259
Tx_end : 31124627
Exon_count : 5
Overlapped_tx_length : 7368
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31117259
Intersect_end : 31124627
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101928937Gene_name : LOC101928937;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : NR_110095
Tx_version : 1
Tx_start : 99093358
Tx_end : 99105011
Exon_count : 5
Overlapped_tx_length : 11653
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 99093358
Intersect_end : 99105011
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107987178Gene_name : LOC107987178;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749203
Tx_version : 3
Tx_start : 74306365
Tx_end : 74341335
Exon_count : 3
Overlapped_tx_length : 34970
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 74306365
Intersect_end : 74341335
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100507250Gene_name : LOC100507250;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : NR_038930
Tx_version : 1
Tx_start : 68674370
Tx_end : 68686859
Exon_count : 3
Overlapped_tx_length : 12489
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 68674370
Intersect_end : 68686859
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903072Gene_name : LOC124903072;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_007063567
Tx_version : 1
Tx_start : 67435143
Tx_end : 67435911
Exon_count : 2
Overlapped_tx_length : 768
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67435143
Intersect_end : 67435911
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903096Gene_name : LOC124903096;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007063619
Tx_version : 1
Tx_start : 103114033
Tx_end : 103114098
Exon_count : 1
Overlapped_tx_length : 65
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103114033
Intersect_end : 103114098
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369890Gene_name : LOC105369890;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_001749246
Tx_version : 2
Tx_start : 89920141
Tx_end : 90112289
Exon_count : 13
Overlapped_tx_length : 192148
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89920141
Intersect_end : 90112289
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100128276Gene_name : LOC100128276;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_148996
Tx_version : 1
Tx_start : 128849170
Tx_end : 128853095
Exon_count : 3
Overlapped_tx_length : 3925
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128849170
Intersect_end : 128853095
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902934Gene_name : LOC124902934;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063311
Tx_version : 1
Tx_start : 52016542
Tx_end : 52033473
Exon_count : 2
Overlapped_tx_length : 16931
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52016542
Intersect_end : 52033473
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369896Gene_name : LOC105369896;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_001749251
Tx_version : 2
Tx_start : 91276224
Tx_end : 91637394
Exon_count : 9
Overlapped_tx_length : 361170
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91276224
Intersect_end : 91637394
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369901Gene_name : LOC105369901;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063580
Tx_version : 1
Tx_start : 91916293
Tx_end : 91969377
Exon_count : 6
Overlapped_tx_length : 53084
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 91916293
Intersect_end : 91969377
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370012Gene_name : LOC105370012;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_945405
Tx_version : 3
Tx_start : 117513552
Tx_end : 117517221
Exon_count : 3
Overlapped_tx_length : 3669
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117513552
Intersect_end : 117517221
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984530Gene_name : LOC107984530;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749202
Tx_version : 1
Tx_start : 71708464
Tx_end : 71731049
Exon_count : 3
Overlapped_tx_length : 22585
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71708464
Intersect_end : 71731049
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:71703265-71785772
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369847Gene_name : LOC105369847;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_945110
Tx_version : 4
Tx_start : 76002371
Tx_end : 76009682
Exon_count : 4
Overlapped_tx_length : 7311
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 76002371
Intersect_end : 76009682
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:75997027-76015616
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903104Gene_name : LOC124903104;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : XR_007063641
Tx_version : 1
Tx_start : 66345718
Tx_end : 66345822
Exon_count : 1
Overlapped_tx_length : 104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 66345718
Intersect_end : 66345822
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903003Gene_name : LOC124903003;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063434
Tx_version : 1
Tx_start : 104399558
Tx_end : 104401893
Exon_count : 2
Overlapped_tx_length : 2335
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104399558
Intersect_end : 104401893
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101928274Gene_name : LOC101928274;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.23
Location2 : UTR
Tx : XR_001749342
Tx_version : 3
Tx_start : 118114344
Tx_end : 118135992
Exon_count : 4
Overlapped_tx_length : 21648
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 118114344
Intersect_end : 118135992
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984499Gene_name : LOC107984499;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_001749091
Tx_version : 2
Tx_start : 41409457
Tx_end : 41412284
Exon_count : 2
Overlapped_tx_length : 2827
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41409457
Intersect_end : 41412284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902981Gene_name : LOC124902981;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063401
Tx_version : 1
Tx_start : 89398199
Tx_end : 89424786
Exon_count : 2
Overlapped_tx_length : 26587
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89398199
Intersect_end : 89424786
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
12:89421154-89421277P_loss_coord : 12:89421154-89421277
P_loss_source : dbVar:nssv18790162
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903010Gene_name : LOC124903010;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063446
Tx_version : 1
Tx_start : 107712381
Tx_end : 107715402
Exon_count : 2
Overlapped_tx_length : 3021
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107712381
Intersect_end : 107715402
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370042Gene_name : LOC105370042;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945477
Tx_version : 4
Tx_start : 123712765
Tx_end : 123723090
Exon_count : 3
Overlapped_tx_length : 10325
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123712765
Intersect_end : 123723090
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : ALG9_congenital_disorder_of_glycosylation; Cutis_laxa_with_osteodystrophy
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903039Gene_name : LOC124903039;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063500
Tx_version : 1
Tx_start : 122864135
Tx_end : 122865357
Exon_count : 2
Overlapped_tx_length : 1222
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 122864135
Intersect_end : 122865357
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
nsv517200B_loss_source : nsv517200
B_loss_coord : 12:122827505-123169951
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903071Gene_name : LOC124903071;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_007063566
Tx_version : 1
Tx_start : 60261704
Tx_end : 60265882
Exon_count : 2
Overlapped_tx_length : 4178
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 60261704
Intersect_end : 60265882
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:59445875-60579362
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903005Gene_name : LOC124903005;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063435
Tx_version : 1
Tx_start : 105072351
Tx_end : 105074016
Exon_count : 2
Overlapped_tx_length : 1665
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 105072351
Intersect_end : 105074016
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903120Gene_name : LOC124903120;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_007063652
Tx_version : 1
Tx_start : 55874677
Tx_end : 55874841
Exon_count : 1
Overlapped_tx_length : 164
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 55874677
Intersect_end : 55874841
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370010Gene_name : LOC105370010;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.22
Location2 : UTR
Tx : XR_945398
Tx_version : 3
Tx_start : 117105903
Tx_end : 117121037
Exon_count : 4
Overlapped_tx_length : 15134
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 117105903
Intersect_end : 117121037
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903001Gene_name : LOC124903001;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063430
Tx_version : 1
Tx_start : 103925472
Tx_end : 103926291
Exon_count : 2
Overlapped_tx_length : 819
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103925472
Intersect_end : 103926291
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100335030Gene_name : LOC100335030;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_033267
Tx_version : 1
Tx_start : 49389173
Tx_end : 49392335
Exon_count : 1
Overlapped_tx_length : 3162
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49389173
Intersect_end : 49392335
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:49378217-49410217
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902980Gene_name : LOC124902980;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_007063400
Tx_version : 1
Tx_start : 89382138
Tx_end : 89394697
Exon_count : 2
Overlapped_tx_length : 12559
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 89382138
Intersect_end : 89394697
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102724960Gene_name : LOC102724960;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945224
Tx_version : 3
Tx_start : 94472316
Tx_end : 94538965
Exon_count : 3
Overlapped_tx_length : 66649
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 94472316
Intersect_end : 94538965
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902983Gene_name : LOC124902983;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063406
Tx_version : 1
Tx_start : 92597705
Tx_end : 92655007
Exon_count : 2
Overlapped_tx_length : 57302
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92597705
Intersect_end : 92655007
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105379613Gene_name : LOC105379613;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_001749379
Tx_version : 1
Tx_start : 126350020
Tx_end : 126357727
Exon_count : 3
Overlapped_tx_length : 7707
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126350020
Intersect_end : 126357727
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126249820-126388933
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369981Gene_name : LOC105369981;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_945338
Tx_version : 2
Tx_start : 111012393
Tx_end : 111025698
Exon_count : 3
Overlapped_tx_length : 13305
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111012393
Intersect_end : 111025698
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903045Gene_name : LOC124903045;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063509
Tx_version : 1
Tx_start : 124742303
Tx_end : 124743187
Exon_count : 2
Overlapped_tx_length : 884
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 124742303
Intersect_end : 124743187
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902933Gene_name : LOC124902933;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063307
Tx_version : 1
Tx_start : 51174554
Tx_end : 51181634
Exon_count : 2
Overlapped_tx_length : 7080
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 51174554
Intersect_end : 51181634
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC102724421Gene_name : LOC102724421;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.3
Location2 : UTR
Tx : NR_120490
Tx_version : 1
Tx_start : 67077625
Tx_end : 67096284
Exon_count : 4
Overlapped_tx_length : 18659
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 67077625
Intersect_end : 67096284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369782Gene_name : LOC105369782;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.2
Location2 : UTR
Tx : XR_944995
Tx_version : 4
Tx_start : 56103813
Tx_end : 56104419
Exon_count : 2
Overlapped_tx_length : 606
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 56103813
Intersect_end : 56104419
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370044Gene_name : LOC105370044;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_945481
Tx_version : 4
Tx_start : 123765167
Tx_end : 123790927
Exon_count : 5
Overlapped_tx_length : 25760
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123765167
Intersect_end : 123790927
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC728739Gene_name : LOC728739;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_037629
Tx_version : 1
Tx_start : 107903149
Tx_end : 107903771
Exon_count : 1
Overlapped_tx_length : 622
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107903149
Intersect_end : 107903771
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903070Gene_name : LOC124903070;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : XR_007063565
Tx_version : 1
Tx_start : 60119461
Tx_end : 60127312
Exon_count : 2
Overlapped_tx_length : 7851
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 60119461
Intersect_end : 60127312
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:59445875-60579362
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369932Gene_name : LOC105369932;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_002957448
Tx_version : 1
Tx_start : 98295040
Tx_end : 98304725
Exon_count : 3
Overlapped_tx_length : 9685
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 98295040
Intersect_end : 98304725
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
ZNF664-RFLNAGene_name : ZNF664-RFLNA;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : 5'UTR-3'UTR
Tx : NM_001204299
Tx_version : 3
Tx_start : 123973214
Tx_end : 124316024
Exon_count : 5
Overlapped_tx_length : 342810
Overlapped_CDS_length : 408
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123973214
Intersect_end : 124316024
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC101929974Gene_name : LOC101929974;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : NR_187799
Tx_version : 1
Tx_start : 131462857
Tx_end : 131529874
Exon_count : 4
Overlapped_tx_length : 67017
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131462857
Intersect_end : 131529874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900325Gene_name : LOC124900325;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_007063629
Tx_version : 1
Tx_start : 93266016
Tx_end : 93266096
Exon_count : 1
Overlapped_tx_length : 80
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 93266016
Intersect_end : 93266096
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272; chr12:93254533-93266545; chr12:93265068-93270032; chr12:93265224-93270224
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124900319Gene_name : LOC124900319;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_007063622
Tx_version : 1
Tx_start : 73764278
Tx_end : 73764413
Exon_count : 1
Overlapped_tx_length : 135
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 73764278
Intersect_end : 73764413
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:73761641-73859621
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902990Gene_name : LOC124902990;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_007063413
Tx_version : 1
Tx_start : 96052647
Tx_end : 96053553
Exon_count : 2
Overlapped_tx_length : 906
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 96052647
Intersect_end : 96053553
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:96043531-96105021
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902926Gene_name : LOC124902926;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_007063290
Tx_version : 1
Tx_start : 47801079
Tx_end : 47805633
Exon_count : 2
Overlapped_tx_length : 4554
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 47801079
Intersect_end : 47805633
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369881Gene_name : LOC105369881;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.32
Location2 : UTR
Tx : XR_945161
Tx_version : 2
Tx_start : 87612216
Tx_end : 87670522
Exon_count : 5
Overlapped_tx_length : 58306
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 87612216
Intersect_end : 87670522
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100130268Gene_name : LOC100130268;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : NR_149000
Tx_version : 1
Tx_start : 75234739
Tx_end : 75251865
Exon_count : 2
Overlapped_tx_length : 17126
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 75234739
Intersect_end : 75251865
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903107Gene_name : LOC124903107;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.2
Location2 : UTR
Tx : XR_007063644
Tx_version : 1
Tx_start : 77162925
Tx_end : 77163025
Exon_count : 1
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 77162925
Intersect_end : 77163025
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370058Gene_name : LOC105370058;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945503
Tx_version : 2
Tx_start : 125994249
Tx_end : 126001995
Exon_count : 2
Overlapped_tx_length : 7746
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125994249
Intersect_end : 126001995
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369917Gene_name : LOC105369917;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_001749265
Tx_version : 1
Tx_start : 95337569
Tx_end : 95405498
Exon_count : 11
Overlapped_tx_length : 67929
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 95337569
Intersect_end : 95405498
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369938Gene_name : LOC105369938;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_001749279
Tx_version : 2
Tx_start : 101598553
Tx_end : 101615784
Exon_count : 5
Overlapped_tx_length : 17231
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101598553
Intersect_end : 101615784
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369886Gene_name : LOC105369886;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_945167
Tx_version : 3
Tx_start : 88749452
Tx_end : 88770156
Exon_count : 3
Overlapped_tx_length : 20704
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88749452
Intersect_end : 88770156
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369935Gene_name : LOC105369935;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_945261
Tx_version : 2
Tx_start : 101526369
Tx_end : 101534280
Exon_count : 3
Overlapped_tx_length : 7911
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 101526369
Intersect_end : 101534280
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903011Gene_name : LOC124903011;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063453
Tx_version : 1
Tx_start : 108893464
Tx_end : 108900496
Exon_count : 2
Overlapped_tx_length : 7032
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108893464
Intersect_end : 108900496
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903111Gene_name : LOC124903111;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007063647
Tx_version : 1
Tx_start : 31450169
Tx_end : 31450273
Exon_count : 1
Overlapped_tx_length : 104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31450169
Intersect_end : 31450273
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369968Gene_name : LOC105369968;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063447
Tx_version : 1
Tx_start : 108628645
Tx_end : 108646665
Exon_count : 4
Overlapped_tx_length : 18020
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 108628645
Intersect_end : 108646665
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902992Gene_name : LOC124902992;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_007063416
Tx_version : 1
Tx_start : 97019568
Tx_end : 97025311
Exon_count : 3
Overlapped_tx_length : 5743
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 97019568
Intersect_end : 97025311
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369753Gene_name : LOC105369753;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.11
Location2 : UTR
Tx : XR_944923
Tx_version : 3
Tx_start : 48279005
Tx_end : 48307429
Exon_count : 4
Overlapped_tx_length : 28424
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 48279005
Intersect_end : 48307429
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:48266859-48326562; chr12:48277817-48320217; chr12:48278450-48307432
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903081Gene_name : LOC124903081;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063589
Tx_version : 1
Tx_start : 115150115
Tx_end : 115170797
Exon_count : 2
Overlapped_tx_length : 20682
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 115150115
Intersect_end : 115170797
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369831Gene_name : LOC105369831;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_945081
Tx_version : 2
Tx_start : 71216833
Tx_end : 71220834
Exon_count : 3
Overlapped_tx_length : 4001
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 71216833
Intersect_end : 71220834
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC100506869Gene_name : LOC100506869;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q14.1
Location2 : UTR
Tx : NR_126341
Tx_version : 1
Tx_start : 58591701
Tx_end : 58812669
Exon_count : 2
Overlapped_tx_length : 220968
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 58591701
Intersect_end : 58812669
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902917Gene_name : LOC124902917;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063274
Tx_version : 1
Tx_start : 38610435
Tx_end : 38620583
Exon_count : 2
Overlapped_tx_length : 10148
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 38610435
Intersect_end : 38620583
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370063Gene_name : LOC105370063;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063518
Tx_version : 1
Tx_start : 126976860
Tx_end : 127028037
Exon_count : 6
Overlapped_tx_length : 51177
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 126976860
Intersect_end : 127028037
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369887Gene_name : LOC105369887;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.33
Location2 : UTR
Tx : XR_945168
Tx_version : 3
Tx_start : 88782020
Tx_end : 88784284
Exon_count : 3
Overlapped_tx_length : 2264
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 88782020
Intersect_end : 88784284
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:88779192-88790829
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369952Gene_name : LOC105369952;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063436
Tx_version : 1
Tx_start : 104984195
Tx_end : 104986370
Exon_count : 2
Overlapped_tx_length : 2175
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104984195
Intersect_end : 104986370
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903000Gene_name : LOC124903000;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063429
Tx_version : 1
Tx_start : 103802693
Tx_end : 103815024
Exon_count : 2
Overlapped_tx_length : 12331
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103802693
Intersect_end : 103815024
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903083Gene_name : LOC124903083;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063602
Tx_version : 1
Tx_start : 128823943
Tx_end : 128829446
Exon_count : 2
Overlapped_tx_length : 5503
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128823943
Intersect_end : 128829446
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369947Gene_name : LOC105369947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_945286
Tx_version : 2
Tx_start : 104140230
Tx_end : 104148585
Exon_count : 3
Overlapped_tx_length : 8355
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 104140230
Intersect_end : 104148585
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369725Gene_name : LOC105369725;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_931503
Tx_version : 2
Tx_start : 31958492
Tx_end : 31959304
Exon_count : 2
Overlapped_tx_length : 812
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31958492
Intersect_end : 31959304
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369759Gene_name : LOC105369759;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : XR_007063295
Tx_version : 1
Tx_start : 49092093
Tx_end : 49095744
Exon_count : 4
Overlapped_tx_length : 3651
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49092093
Intersect_end : 49095744
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984452Gene_name : LOC107984452;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_001749406
Tx_version : 2
Tx_start : 131073636
Tx_end : 131074235
Exon_count : 2
Overlapped_tx_length : 599
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131073636
Intersect_end : 131074235
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:131070444-131103799; chr12:131071539-131098897
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369735Gene_name : LOC105369735;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063560
Tx_version : 1
Tx_start : 40207520
Tx_end : 40209458
Exon_count : 2
Overlapped_tx_length : 1938
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40207520
Intersect_end : 40209458
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:39639819-40952816
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902919Gene_name : LOC124902919;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063278
Tx_version : 1
Tx_start : 39447155
Tx_end : 39448769
Exon_count : 2
Overlapped_tx_length : 1614
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 39447155
Intersect_end : 39448769
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369875Gene_name : LOC105369875;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_945151
Tx_version : 2
Tx_start : 84492396
Tx_end : 84508906
Exon_count : 3
Overlapped_tx_length : 16510
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 84492396
Intersect_end : 84508906
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369983Gene_name : LOC105369983;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11-q24.12
Location2 : UTR
Tx : XR_945341
Tx_version : 2
Tx_start : 111285228
Tx_end : 111320162
Exon_count : 4
Overlapped_tx_length : 34934
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111285228
Intersect_end : 111320162
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : CUX2-related_condition; Developmental_and_epileptic_encephalopathy,_67
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903009Gene_name : LOC124903009;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007063445
Tx_version : 1
Tx_start : 107097435
Tx_end : 107098862
Exon_count : 2
Overlapped_tx_length : 1427
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 107097435
Intersect_end : 107098862
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903084Gene_name : LOC124903084;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_007063603
Tx_version : 1
Tx_start : 128867597
Tx_end : 128871715
Exon_count : 3
Overlapped_tx_length : 4118
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 128867597
Intersect_end : 128871715
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369998Gene_name : LOC105369998;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.21
Location2 : UTR
Tx : XR_007063469
Tx_version : 1
Tx_start : 114414356
Tx_end : 114448581
Exon_count : 3
Overlapped_tx_length : 34225
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 114414356
Intersect_end : 114448581
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902922Gene_name : LOC124902922;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063281
Tx_version : 1
Tx_start : 44312889
Tx_end : 44323277
Exon_count : 2
Overlapped_tx_length : 10388
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44312889
Intersect_end : 44323277
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369975Gene_name : LOC105369975;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_945333
Tx_version : 2
Tx_start : 109840326
Tx_end : 109843482
Exon_count : 2
Overlapped_tx_length : 3156
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109840326
Intersect_end : 109843482
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903012Gene_name : LOC124903012;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063454
Tx_version : 1
Tx_start : 109880897
Tx_end : 109881401
Exon_count : 3
Overlapped_tx_length : 504
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 109880897
Intersect_end : 109881401
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:109864402-109882710
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903051Gene_name : LOC124903051;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_007063524
Tx_version : 1
Tx_start : 127613342
Tx_end : 127638981
Exon_count : 3
Overlapped_tx_length : 25639
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 127613342
Intersect_end : 127638981
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369839Gene_name : LOC105369839;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.1
Location2 : UTR
Tx : XR_001749105
Tx_version : 1
Tx_start : 73308187
Tx_end : 73342971
Exon_count : 3
Overlapped_tx_length : 34784
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 73308187
Intersect_end : 73342971
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903041Gene_name : LOC124903041;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.31
Location2 : UTR
Tx : XR_007063502
Tx_version : 1
Tx_start : 123441443
Tx_end : 123443155
Exon_count : 2
Overlapped_tx_length : 1712
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 123441443
Intersect_end : 123443155
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903018Gene_name : LOC124903018;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063461
Tx_version : 1
Tx_start : 111189231
Tx_end : 111200366
Exon_count : 2
Overlapped_tx_length : 11135
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 111189231
Intersect_end : 111200366
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902916Gene_name : LOC124902916;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007063273
Tx_version : 1
Tx_start : 38166723
Tx_end : 38167634
Exon_count : 2
Overlapped_tx_length : 911
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 38166723
Intersect_end : 38167634
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369902Gene_name : LOC105369902;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22
Location2 : UTR
Tx : XR_945203
Tx_version : 3
Tx_start : 92349344
Tx_end : 92388403
Exon_count : 3
Overlapped_tx_length : 39059
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 92349344
Intersect_end : 92388403
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124903016Gene_name : LOC124903016;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.11
Location2 : UTR
Tx : XR_007063459
Tx_version : 1
Tx_start : 110470288
Tx_end : 110489293
Exon_count : 3
Overlapped_tx_length : 19005
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110470288
Intersect_end : 110489293
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC124902935Gene_name : LOC124902935;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_007063313
Tx_version : 1
Tx_start : 52311109
Tx_end : 52311979
Exon_count : 2
Overlapped_tx_length : 870
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 52311109
Intersect_end : 52311979
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:52288216-52316216
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC107984536Gene_name : LOC107984536;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q21.31
Location2 : UTR
Tx : XR_001749234
Tx_version : 2
Tx_start : 83888847
Tx_end : 84186576
Exon_count : 4
Overlapped_tx_length : 297729
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 83888847
Intersect_end : 84186576
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370082Gene_name : LOC105370082;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.33
Location2 : UTR
Tx : XR_945558
Tx_version : 3
Tx_start : 131225198
Tx_end : 131262761
Exon_count : 4
Overlapped_tx_length : 37563
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131225198
Intersect_end : 131262761
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105370055Gene_name : LOC105370055;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q24.32
Location2 : UTR
Tx : XR_945494
Tx_version : 2
Tx_start : 125704500
Tx_end : 125707950
Exon_count : 3
Overlapped_tx_length : 3450
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 125704500
Intersect_end : 125707950
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:125699983-125715650
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369945Gene_name : LOC105369945;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_135004
Tx_version : 1
Tx_start : 103496039
Tx_end : 103497695
Exon_count : 3
Overlapped_tx_length : 1656
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 103496039
Intersect_end : 103497695
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 100967822
splitAnnotation_mode : split
LOC105369828Gene_name : LOC105369828;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q15
Location2 : UTR
Tx : XR_001749196
Tx_version : 2
Tx_start : 70468078
Tx_end : 70571450
Exon_count : 9
Overlapped_tx_length : 103372
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 70468078
Intersect_end : 70571450
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 2.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3C (90 genes, +0.90): 35+ genes wholly or partially included
5H (BCLAF1/ENPP1/L3MBTL3/MYB/RE:HOXA13, +0.30): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7).
DELSV_type : DEL
SV_length : 7000000
Gene_count : 90
fullAnnotation_mode : full
.Location : .
CytoBand : q22.33-q23.3
0.8525Exomiser_gene_pheno_score : 0.8525
CPhenoGenius_specificity : C
HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); IL6ST[...]RE_gene : HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); IL6ST (EX=0.8959/morbid/RE=mTL_miRNA); LMBR1 (EX=0.8742/morbid/RE=mTL_miRNA); ESCO2 (EX=0.8612/morbid/RE=mTL_miRNA); KANSL1 (HI=3/EX=0.8600/morbid/RE=mTL_miRNA); PSAT1 (EX=0.8525/morbid/RE=mTL_miRNA); CCBE1 (EX=0.8484/morbid/RE=mTL_miRNA); SKI (EX=0.8478/morbid/RE=mTL_miRNA); NFIA (HI=3/EX=0.8264/morbid/RE=mTL_miRNA); DDX3X (HI=3/EX=0.8221/morbid/RE=mTL_miRNA); AMER1 (EX=0.8152/morbid/RE=mTL_miRNA); GTF2H5 (EX=0.8078/morbid/RE=mTL_miRNA); CTCF (HI=3/EX=0.8061/morbid/RE=mTL_miRNA); SMC1A (HI=3/EX=0.8038/morbid/RE=mTL_miRNA); PDGFRA (EX=0.8026/morbid/RE=mTL_miRNA); CBFB (EX=0.7836/morbid/RE=mTL_miRNA); SOX11 (HI=3/EX=0.7815/morbid/RE=mTL_miRNA); SLC35D1 (EX=0.7598/morbid/RE=mTL_miRNA); KRAS (PG=A/EX=0.7598/morbid/RE=mTL_miRNA); RAC3 (EX=0.7533/morbid/RE=mTL_miRNA); BBS5 (EX=0.7489/morbid/RE=mTL_miRNA); CEP120 (EX=0.7420/morbid/RE=mTL_miRNA); ZMPSTE24 (EX=0.7414/morbid/RE=mTL_miRNA); NRAS (EX=0.7411/morbid/RE=mTL_miRNA); RRAS2 (EX=0.7411/morbid/RE=mTL_miRNA); PRKG2 (EX=0.7272/morbid/RE=mTL_miRNA); PKD1 (HI=3/EX=0.7262/morbid/RE=mTL_miRNA); LNPK (EX=0.7228/morbid/RE=mTL_miRNA); LZTFL1 (EX=0.7218/morbid/RE=mTL_miRNA); RLIM (EX=0.7187/morbid/RE=mTL_miRNA); ARID1A (HI=3/EX=0.7152/morbid/RE=mTL_miRNA); GPC4 (EX=0.7151/morbid/RE=mTL_miRNA); RPL10A (EX=0.8371/RE=mTL_miRNA); INTU (EX=0.8336/RE=mTL_miRNA); JMJD1C (EX=0.8300/RE=mTL_miRNA); ADAMTS5 (EX=0.8271/RE=mTL_miRNA); SNAI2 (EX=0.8056/RE=mTL_miRNA); RECK (EX=0.7694/RE=mTL_miRNA); RDH11 (EX=0.7598/RE=mTL_miRNA); VEGFA (EX=0.7459/RE=mTL_miRNA); SUCO (EX=0.7159/RE=mTL_miRNA); ACSL4 (morbid/RE=mTL_miRNA); DDX6 (morbid/RE=mTL_miRNA); HPRT1 (HI=3/morbid/RE=mTL_miRNA); WNK1 (morbid/RE=mTL_miRNA); EPHB4 (morbid/RE=mTL_miRNA); PDZD8 (morbid/RE=mTL_miRNA); PIK3CG (morbid/RE=mTL_miRNA); CD59 (morbid/RE=mTL_miRNA); MCC (morbid/RE=mTL_miRNA); CTNNA3 (morbid/RE=mTL_miRNA); PITX3 (morbid/RE=mTL_miRNA); ARL13B (morbid/RE=mTL_miRNA); TRMT5 (morbid/RE=mTL_miRNA); FGF5 (morbid/RE=mTL_miRNA); POLR1B (morbid/RE=mTL_miRNA); HNRNPDL (morbid/RE=mTL_miRNA); ANGPTL3 (morbid/RE=mTL_miRNA); ARF1 (morbid/RE=mTL_miRNA); ABCB7 (morbid/RE=mTL_miRNA); FXN (morbid/RE=mTL_miRNA); PPP1R15B (morbid/RE=mTL_miRNA); ASH1L (HI=3/morbid/RE=mTL_miRNA); IKZF5 (morbid/RE=mTL_miRNA); WEE2 (morbid/RE=mTL_miRNA); PCK1 (morbid/RE=mTL_miRNA); GAN (morbid/RE=mTL_miRNA); MYO5A (morbid/RE=mTL_miRNA); PPIP5K2 (morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); ETV6 (HI=3/morbid/RE=mTL_miRNA); IMP3 (morbid/RE=mTL_miRNA); DDR2 (morbid/RE=mTL_miRNA); LDHD (morbid/RE=mTL_miRNA); PTPN14 (morbid/RE=mTL_miRNA); MARVELD2 (morbid/RE=mTL_miRNA); RNF2 (morbid/RE=mTL_miRNA); ALG1 (morbid/RE=mTL_miRNA); LMAN1 (morbid/RE=mTL_miRNA); MKRN3 (morbid/RE=mTL_miRNA); PANX1 (morbid/RE=mTL_miRNA); RSRC1 (morbid/RE=mTL_miRNA); TACR3 (morbid/RE=mTL_miRNA); CRLS1 (morbid/RE=mTL_miRNA); TNPO2 (morbid/RE=mTL_miRNA); GOT1 (morbid/RE=mTL_miRNA); SIK1 (morbid/RE=mTL_miRNA); ACTA1 (morbid/RE=mTL_miRNA); YAP1 (morbid/RE=mTL_miRNA); ZBTB20 (morbid/RE=mTL_miRNA); ATP9A (morbid/RE=mTL_miRNA); GGCX (morbid/RE=mTL_miRNA); RARB (morbid/RE=mTL_miRNA); MEF2C (HI=3/morbid/RE=mTL_miRNA); FRMD5 (morbid/RE=mTL_miRNA); MED12L (morbid/RE=mTL_miRNA); CHEK2 (HI=3/morbid/RE=mTL_miRNA); CLN8 (morbid/RE=mTL_miRNA); XIAP (HI=3/morbid/RE=mTL_miRNA); ADAMTS18 (morbid/RE=mTL_miRNA); AGO2 (morbid/RE=mTL_miRNA); SLC16A1 (morbid/RE=mTL_miRNA); CYP2U1 (morbid/RE=mTL_miRNA); HINT1 (morbid/RE=mTL_miRNA); RAB33B (morbid/RE=mTL_miRNA); ACVR2B (morbid/RE=mTL_miRNA); STK4 (morbid/RE=mTL_miRNA); VRK1 (morbid/RE=mTL_miRNA); DGKE (morbid/RE=mTL_miRNA); COL4A3 (morbid/RE=mTL_miRNA); LIPA (morbid/RE=mTL_miRNA); SUZ12 (morbid/RE=mTL_miRNA); ZNF711 (morbid/RE=mTL_miRNA); HNRNPU (morbid/RE=mTL_miRNA); TNFAIP3 (morbid/RE=mTL_miRNA); DNAAF3 (morbid/RE=mTL_miRNA); GABRB3 (morbid/RE=mTL_miRNA); CALM1 (morbid/RE=mTL_miRNA); GDAP2 (morbid/RE=mTL_miRNA); SLC5A6 (morbid/RE=mTL_miRNA); TUBB2A (morbid/RE=mTL_miRNA); SLX4 (morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); UFM1 (morbid/RE=mTL_miRNA); MFF (morbid/RE=mTL_miRNA); ECHS1 (morbid/RE=mTL_miRNA); SH3TC2 (morbid/RE=mTL_miRNA); POFUT1 (morbid/RE=mTL_miRNA); SLC25A11 (morbid/RE=mTL_miRNA); MAP3K1 (morbid/RE=mTL_miRNA); PRLR (morbid/RE=mTL_miRNA); POLH (morbid/RE=mTL_miRNA); ZIC2 (HI=3/morbid/RE=mTL_miRNA); MAP2K1 (morbid/RE=mTL_miRNA); SLC6A8 (HI=3/morbid/RE=mTL_miRNA); CALR (morbid/RE=mTL_miRNA); GSR (morbid/RE=mTL_miRNA); MDFIC (morbid/RE=mTL_miRNA); ZFHX3 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); ABHD5 (morbid/RE=mTL_miRNA); MMADHC (morbid/RE=mTL_miRNA); MYO6 (morbid/RE=mTL_miRNA); KIF1B (morbid/RE=mTL_miRNA); ERI1 (morbid/RE=mTL_miRNA); FXR1 (morbid/RE=mTL_miRNA); SNCB (morbid/RE=mTL_miRNA); RORA (morbid/RE=mTL_miRNA); LMNB2 (morbid/RE=mTL_miRNA); ESR1 (morbid/RE=mTL_miRNA); NDRG1 (morbid/RE=mTL_miRNA); PEX7 (morbid/RE=EA_enhancer+mTL_miRNA); CLDN16 (morbid/RE=mTL_miRNA); VLDLR (morbid/RE=mTL_miRNA); MYOCD (morbid/RE=mTL_miRNA); FANCC (morbid/RE=mTL_miRNA); DEF6 (morbid/RE=mTL_miRNA); PACS1 (morbid/RE=mTL_miRNA); EXOC2 (morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); IGF1R (HI=3/morbid/RE=mTL_miRNA); SYT2 (morbid/RE=mTL_miRNA); ILDR1 (morbid/RE=mTL_miRNA); DDB1 (morbid/RE=mTL_miRNA); PFN1 (morbid/RE=mTL_miRNA); TBL1XR1 (HI=3/morbid/RE=mTL_miRNA); NHLRC2 (morbid/RE=mTL_miRNA); APP (morbid/RE=mTL_miRNA); TRIM37 (morbid/RE=mTL_miRNA); ACTN4 (morbid/RE=mTL_miRNA); USP53 (morbid/RE=mTL_miRNA); CDKN1B (HI=3/morbid/RE=mTL_miRNA); HES7 (morbid/RE=mTL_miRNA); ALG9 (morbid/RE=mTL_miRNA); HCFC1 (morbid/RE=mTL_miRNA); EMP2 (morbid/RE=mTL_miRNA); SMARCAD1 (morbid/RE=mTL_miRNA); OPHN1 (HI=3/morbid/RE=mTL_miRNA); IL6R (morbid/RE=mTL_miRNA); GATM (morbid/RE=mTL_miRNA); SPPL2A (morbid/RE=mTL_miRNA); PAFAH1B1 (HI=3/morbid/RE=mTL_miRNA); SAR1B (morbid/RE=mTL_miRNA); MTHFD1 (morbid/RE=mTL_miRNA); SET (morbid/RE=mTL_miRNA); PURA (HI=3/morbid/RE=mTL_miRNA); NCKAP1 (HI=3/RE=mTL_miRNA); PTCHD1 (HI=3/RE=mTL_miRNA);
6:129464281-129481449; 6:129484762-129489748;[...]P_loss_coord : 6:129464281-129481449; 6:129484762-129489748; 6:129486455-129486642; 6:129486465-129486632; 6:129486475-129486622; 6:129502640-129514615; 6:129505191-129505365; 6:129516171-129516367; 6:129516181-129516357; 6:130447890-135688079; 6:131573226-131584329; 6:131576654-131583918; 6:131579078-131581388; 6:131582441-131582677; 6:131598715-131628242; 6:131688638-132215008; 6:131808020-131895155; 6:131885763-131891378; 6:131885764-131891377; 6:133201722-134220173; 6:133240594-133532128; 6:133241357-133532128; 6:133461095-133462784; 6:133462765-133464858; 6:133462765-133467609; 6:133506021-133528840; 6:133525016-133528805; 6:135249941-136439720; 6:135358113-135358207; 6:135358113-135433276; 6:135389556-135414641; 6:135390348-135414641; 6:135394756-135411564; 6:135394757-135411564; 6:135400147-135409846; 6:135427205-135497740; 6:135428610-135463326; 6:135428624-135463312; 6:135429863-135433276; 6:135429883-135433256; 6:135433258-135442581; 6:135437870-135441094; 6:135448291-135448475; 6:135457584-135465286
P_loss_source : CLN:28632; HI3:EYA4; dbVar:nssv15120194; dbVar:nssv15120618; dbVar:nssv15123008; dbVar:nssv15129201; dbVar:nssv15129242; dbVar:nssv15129438; dbVar:nssv15130008; dbVar:nssv15146071; dbVar:nssv15149459; dbVar:nssv15153018; dbVar:nssv15154202; dbVar:nssv15770692; dbVar:nssv15771048; dbVar:nssv15772892; nssv15776067; dbVar:nssv15772897; nssv17970152; dbVar:nssv15774884; nssv15776636; dbVar:nssv16213368; dbVar:nssv16213810; dbVar:nssv16214266; dbVar:nssv16866445; dbVar:nssv17171381; dbVar:nssv17171560; dbVar:nssv17171763; dbVar:nssv17172533; dbVar:nssv17649878; dbVar:nssv17956794; dbVar:nssv17968989; dbVar:nssv17974155; dbVar:nssv17976625; dbVar:nssv17976660; dbVar:nssv18330541; dbVar:nssv18786341; dbVar:nssv18786863; dbVar:nssv18786865; dbVar:nssv18789162; dbVar:nssv18789740; dbVar:nssv18791029; morbid:AHI1; morbid:ARG1; morbid:ENPP1; morbid:EYA4; morbid:MED23
P_loss_phen : ?Cardiomyopathy, dilated, 1J, 605362 (3) AD; Deafness, AD 10, 601316 (3) AD; Argininemia, 207800 (3) AR; Arterial calcification, generalized, of infancy, 1, 208000 (3) AR; Cole disease, 615522 (3) AD; Hypophosphatemic rickets, AR, 2, 613312 (3) AR; Diabetes mellitus, non-insulin-dependent, susceptibility to, 125853 (3) AD; Obesity, susceptibility to, 601665 (3) AR,Multifactorial,AD; Hypophosphatemic_rickets,_autosomal_recessive,_2; Intellectual developmental disorder, AR 18, with or without epilepsy, 614249 (3) AR; Joubert syndrome 3, 608629 (3) AR
P_loss_hpo : .
po_P_loss_phen : Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) AR; Muscular dystrophy, limb-girdle, AR 23, 618138 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15146226; dbVar:nssv18841926; dbVar:nssv17976930; dbVar:nssv15150225; dbVar:nssv15148975; morbid:LAMA2; dbVar:nssv15131062; dbVar:nssv17171753; dbVar:nssv15138374; dbVar:nssv15605893; dbVar:nssv17970913; dbVar:nssv17972732; dbVar:nssv18789170; dbVar:nssv15151456; dbVar:nssv15151457; dbVar:nssv15149497; dbVar:nssv17650006; dbVar:nssv16208825; dbVar:nssv17976284; dbVar:nssv15606074; dbVar:nssv15128437; dbVar:nssv16213178
po_P_loss_coord : 6:108944900-132067720; 6:113857249-130442177; 6:115941809-133892653; 6:122291496-131243323; 6:126494534-132497855; 6:128883138-129516566; 6:128883227-129516367; 6:128883237-129516357; 6:129191314-132131620; 6:129192693-132297852; 6:129391472-129473372; 6:129427743-129460334; 6:129445658-129516357; 6:131066884-137148503; 6:131681321-136839712; 6:132756101-143440445; 6:133489073-139725478; 6:133496204-139717264; 6:134838332-142160056; 6:134918496-146676374; 6:135996607-146345644; 6:136161591-137219383
po_P_loss_percent : 11.29; 5.94; 24.71; 19.95; 50.64; 9.30; 9.27; 9.27; 90.94; 91.47; 19.19; 8.21; 83.03; 88.64; 92.59; 34.64; 47.60; 47.60; 22.12; 13.09; 4.46; 27.99
381P_snvindel_nb : 381
P_snvindel_phen : AHI1-related_condition; Abnormality_of_the_musculature; Arginase_deficiency; Arterial_calcification,_generalized,_of_infancy,_1; Autosomal_dominant_nonsyndromic_hearing_loss_10; Congenital_Muscular_Dystrophy,_LAMA2-related; Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency; Coronary_sclerosis,_medial,_of_infancy; Dilated_cardiomyopathy_1J; ENPP1-Related_Disorders; EYA4-related_condition; Elevated_circulating_creatine_kinase_concentration; Exercise-induced_myalgia; Familial_aplasia_of_the_vermis; Global_developmental_delay; Hypophosphatemic_rickets,_autosomal_recessive,_2; Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome; Inborn_genetic_diseases; Intellectual_disability,_autosomal_recessive_18; Joubert_syndrome_1; Joubert_syndrome_3; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_ocular_defect; LAMA2-related_disorders; LAMA2-related_muscular_dystrophy; Leber_congenital_amaurosis; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23; Myalgia; Nephronophthisis; Nonsyndromic_genetic_hearing_loss; Obesity; Retinal_dystrophy; Retinitis_pigmentosa; Rod-cone_dystrophy; See_cases; Type_2_diabetes_mellitus; Typical_Joubert_syndrome_MRI_findings
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr6:129479092-129479159 dbVar; chr6:129505542-129505759 dbVar; chr6:129552799-129568467 dbVar; chr6:129609533-129609998 dbVar; 6:129609574-129609987 DDD:22163; chr6:129613407-129614046 dbVar; chr6:129624667-129625518 dbVar; chr6:129625219-129625252 HPRC:pbsv.DEL.8316; 6:129625259-129625318 CMRI:72_pbsv.DEL.1616_duplicate1; 6:129625369-129625480 CMRI:11_pbsv.DEL.2957_duplicate1; chr6:129625434-129625496 HPRC:pbsv.DEL.8320; chr6:129629038-129636663 dbVar; chr6:129643628-129643805 dbVar; chr6:129672256-129672389 dbVar; chr6:129787548-129787935 dbVar; chr6:129807306-129808248 dbVar; chr6:129838858-129840894 dbVar; chr6:129866621-129879071 dbVar; chr6:129892553-129892645 dbVar; chr6:129975407-129975512 dbVar; chr6:129996841-129996865 HPRC:pbsv.DEL.8335...
po_B_loss_someG_coord : chr6:129453789-129458517 dbVar; chr6:129484760-129489745 dbVar; chr6:129507091-129507926 dbVar; chr6:129599153-129599176 HPRC:pbsv.DEL.8312; 6:129609534-129609998 1000g; chr6:129609574-129610023 dbVar; chr6:129617597-129669138 dbVar; 6:129625040-129625210 CMRI:11_pbsv.DEL.2956_duplicate1; chr6:129625230-129625342 dbVar; chr6:129625331-129625475 HPRC:pbsv.DEL.8317; chr6:129625389-129625411 HPRC:pbsv.DEL.8318; chr6:129625806-129625870 HPRC:pbsv.DEL.8323; chr6:129643626-129643805 dbVar; chr6:129652643-129652712 dbVar; chr6:129717997-129718255 dbVar; chr6:129791422-129791530 dbVar; chr6:129832758-129838328 dbVar; chr6:129853438-129853502 dbVar; chr6:129881391-129882323 dbVar; chr6:129902784-129902900 dbVar; chr6:129991746-129992522 dbVar...
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:129457399-129457583; 6:129457605-129457686; 6:129457687-129458053
Repeat_type_left : MIRb; MIR; MLT1A0
Gap_left : .
GC_content_left : 0.270
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:136456863-136459916
Repeat_type_right : L1MB1
Gap_right : .
GC_content_right : 0.315
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
ENPP1Gene_name : ENPP1;
LOEUF_bin : 3
GnomAD_pLI : 4.9944e-08
ExAC_pLI : 2.3099e-05
HI : 30
TS : 0
DDD_HI_percent : 20.17
ACMG : .
ExAC_cnvZ : -0.386980979457318
ExAC_delZ : -1.22625459266465
ExAC_dupZ : 0.089622226804733
ExAC_synZ : -0.585880884473098
ExAC_misZ : 0.652538185099446
GenCC_disease : arterial calcification of infancy; arterial calcification, generalized, of infancy, 1; autosomal recessive hypophosphatemic rickets; autosomal recessive inherited pseudoxanthoma elasticum; hypophosphatemic rickets, autosomal recessive, 2; hypopigmentation-punctate palmoplantar keratoderma syndrome
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 11159191; 12881724; 15605415; 15940697; 16369898; 19206175; 20016754; 20137772; 20137773; 21745613; 22209248; 22539483; 24075184; 24075184[PMID]; 253403; 25392903[PMID]; 25615550[PMID]; 25741938; 26617416; 28964717; 35482848; NULL
NCBI_gene_ID : 5167
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_006208
Tx_version : 3
Tx_start : 131808019
Tx_end : 131895155
Exon_count : 25
Overlapped_tx_length : 87136
Overlapped_CDS_length : 2778
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131808019
Intersect_end : 131895155
173335; OMIM_ID : 173335;
OMIM_phenotype : Arterial calcification, generalized, of infancy, 1, 208000 (3) AR;
Cole disease, 615522 (3) AD;
Hypophosphatemic rickets, AR, 2, 613312 (3) AR;
(Diabetes mellitus, non-insulin-dependent, susceptibility to), 125853 (3) AD;
(Obesity, susceptibility to), 601665 (3) AR,Multifactorial,AD;
OMIM_inheritance : AD; AR; AR,Multifactorial,AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.8525Exomiser_gene_pheno_score : 0.8525
Human_pheno_evidence : Autosomal recessive hypophosphatemic rickets; Craniosynostosis
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal hand joint morphology; abnormal nucleus pulposus morphology
Fish_pheno_evidence : Craniosynostosis; ceratohyal cartilage premature perichondral ossification, abnormal
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.23
.RE_gene : .
6:131808020-131895155; 6:131885763-131891378;[...]P_loss_coord : 6:131808020-131895155; 6:131885763-131891378; 6:131885764-131891377
P_loss_source : CLN:28632; dbVar:nssv15120194; morbid:ENPP1
P_loss_phen : Arterial calcification, generalized, of infancy, 1, 208000 (3) AR; Cole disease, 615522 (3) AD; Hypophosphatemic rickets, AR, 2, 613312 (3) AR; Diabetes mellitus, non-insulin-dependent, susceptibility to, 125853 (3) AD; Obesity, susceptibility to, 601665 (3) AR,Multifactorial,AD; Hypophosphatemic_rickets,_autosomal_recessive,_2
P_loss_hpo : .
33P_snvindel_nb : 33
P_snvindel_phen : Arterial_calcification,_generalized,_of_infancy,_1; Coronary_sclerosis,_medial,_of_infancy; ENPP1-Related_Disorders; Hypophosphatemic_rickets,_autosomal_recessive,_2; Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome; Obesity; Type_2_diabetes_mellitus
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
AHI1Gene_name : AHI1;
LOEUF_bin : 5
GnomAD_pLI : 1.0773e-25
ExAC_pLI : 3.2566e-14
HI : 30
TS : 0
DDD_HI_percent : 32.57
ACMG : .
ExAC_cnvZ : -0.166948525080606
ExAC_delZ : -0.952766813341356
ExAC_dupZ : 0.339694042772834
ExAC_synZ : -2.15454364260372
ExAC_misZ : -1.62807685007529
GenCC_disease : Joubert syndrome; Joubert syndrome 17; Joubert syndrome 3; Joubert syndrome with ocular defect; retinitis pigmentosa
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 15322546; 15467982; 16155189; 16240161; 16453322; 18054307; 20615230[PMID]_20301500[PMID]; 21937992; 22693042[PMID]; 23532844; 25356976; 25616960; 28442540[PMID]; 28442542
NCBI_gene_ID : 54806
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001134830
Tx_version : 2
Tx_start : 135283531
Tx_end : 135497740
Exon_count : 27
Overlapped_tx_length : 214209
Overlapped_CDS_length : 3591
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135283531
Intersect_end : 135497740
608894; OMIM_ID : 608894;
OMIM_phenotype : Joubert syndrome 3, 608629 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6248Exomiser_gene_pheno_score : 0.6248
Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome with ocular defect
Mouse_pheno_evidence : Craniosynostosis; abnormal retina apoptosis
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.17
.RE_gene : .
6:135358113-135358207; 6:135358113-135433276;[...]P_loss_coord : 6:135358113-135358207; 6:135358113-135433276; 6:135389556-135414641; 6:135390348-135414641; 6:135394756-135411564; 6:135394757-135411564; 6:135400147-135409846; 6:135427205-135497740; 6:135428610-135463326; 6:135428624-135463312; 6:135429863-135433276; 6:135429883-135433256; 6:135433258-135442581; 6:135437870-135441094; 6:135448291-135448475; 6:135457584-135465286
P_loss_source : dbVar:nssv15130008; dbVar:nssv15149459; dbVar:nssv15153018; dbVar:nssv15154202; dbVar:nssv15772892; nssv15776067; dbVar:nssv15772897; nssv17970152; dbVar:nssv15774884; nssv15776636; dbVar:nssv16213368; dbVar:nssv16866445; dbVar:nssv17171381; dbVar:nssv17171560; dbVar:nssv17649878; dbVar:nssv18786341; dbVar:nssv18786863; dbVar:nssv18786865; morbid:AHI1
P_loss_phen : Joubert syndrome 3, 608629 (3) AR
P_loss_hpo : .
137P_snvindel_nb : 137
P_snvindel_phen : AHI1-related_condition; Familial_aplasia_of_the_vermis; Global_developmental_delay; Inborn_genetic_diseases; Joubert_syndrome_1; Joubert_syndrome_3; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_ocular_defect; Leber_congenital_amaurosis; Nephronophthisis; Retinal_dystrophy; Retinitis_pigmentosa; Rod-cone_dystrophy; See_cases; Typical_Joubert_syndrome_MRI_findings
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MYBGene_name : MYB;
LOEUF_bin : 1
GnomAD_pLI : 8.1924e-01
ExAC_pLI : 8.8185e-01
HI : .
TS : .
DDD_HI_percent : 1.04
ACMG : .
ExAC_cnvZ : 0.788202289069363
ExAC_delZ : 0.389559790115154
ExAC_dupZ : 0.801973517806529
ExAC_synZ : 0.285638037488361
ExAC_misZ : 2.17018457637622
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4602
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001130173
Tx_version : 2
Tx_start : 135181307
Tx_end : 135219172
Exon_count : 16
Overlapped_tx_length : 37865
Overlapped_CDS_length : 2286
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135181307
Intersect_end : 135219172
189990; OMIM_ID : 189990;
OMIM_phenotype : (T-cell acute lymphoblastic leukemia) (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.8056Exomiser_gene_pheno_score : 0.8056
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; anophthalmia; polydactyly
Fish_pheno_evidence : Craniosynostosis; ossification involved in bone maturation arrested, abnormal
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LAMA2Gene_name : LAMA2;
LOEUF_bin : 3
GnomAD_pLI : 2.4118e-47
ExAC_pLI : 1.1847e-24
HI : 30
TS : 0
DDD_HI_percent : 4.68
ACMG : .
ExAC_cnvZ : -0.85118677989896
ExAC_delZ : -1.21481296794411
ExAC_dupZ : -0.902807556587679
ExAC_synZ : -0.499311090421406
ExAC_misZ : -1.19434974589271
GenCC_disease : LAMA2-related muscular dystrophy; congenital merosin-deficient muscular dystrophy 1A; muscular dystrophy, limb-girdle, autosomal recessive 23
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 11071490; 11591858; 11938437; 12552556; 12601554; 16216942; 18700894; 20207543; 22675738; 24223650[PMID]_22675738[PMID]; 32904964; 7550355; 9158149
NCBI_gene_ID : 3908
intron48-txEndLocation : intron48-txEnd
CytoBand : q22.33
Location2 : CDS-3'UTR
Tx : NM_000426
Tx_version : 4
Tx_start : 128883137
Tx_end : 129516566
Exon_count : 65
Overlapped_tx_length : 58908
Overlapped_CDS_length : 2502
Overlapped_CDS_percent : 26
Frameshift : no
Dist_nearest_SS : 1164
Nearest_SS_type : 5'
Intersect_start : 129457658
Intersect_end : 129516566
156225; OMIM_ID : 156225;
OMIM_phenotype : Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) AR;
Muscular dystrophy, limb-girdle, AR 23, 618138 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6107Exomiser_gene_pheno_score : 0.6107
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased cranium width
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
6:129464281-129481449; 6:129484762-129489748;[...]P_loss_coord : 6:129464281-129481449; 6:129484762-129489748; 6:129486455-129486642; 6:129486465-129486632; 6:129486475-129486622; 6:129502640-129514615; 6:129505191-129505365; 6:129516171-129516367; 6:129516181-129516357
P_loss_source : dbVar:nssv15129201; dbVar:nssv15129242; dbVar:nssv15129438; dbVar:nssv15146071; dbVar:nssv16213810; dbVar:nssv17171763; dbVar:nssv17172533; dbVar:nssv17974155; dbVar:nssv18789162
P_loss_phen : .
P_loss_hpo : .
119P_snvindel_nb : 119
P_snvindel_phen : Abnormality_of_the_musculature; Congenital_Muscular_Dystrophy,_LAMA2-related; Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency; Elevated_circulating_creatine_kinase_concentration; Exercise-induced_myalgia; Inborn_genetic_diseases; LAMA2-related_disorders; LAMA2-related_muscular_dystrophy; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23; Myalgia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
EYA4Gene_name : EYA4;
LOEUF_bin : 2
GnomAD_pLI : 4.8720e-02
ExAC_pLI : 1.2643e-01
HI : 3
TS : 0
DDD_HI_percent : 3.86
ACMG : .
ExAC_cnvZ : 0.661381116505353
ExAC_delZ : 0.106110501658047
ExAC_dupZ : 0.890913886813156
ExAC_synZ : 0.258592172400034
ExAC_misZ : 0.724936428068574
GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 10; dilated cardiomyopathy 1J; nonsyndromic genetic hearing loss
GenCC_moi : AD
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 11159937; 15735644; 15735644[PMID]; 17567890; 17568404; 18219393; 20301607; 20301607[PMID]_24148127[PMID]; 22938506; 24123792; 25242383; 25681523; 25781927; 25963406; 26015337; 26331839; 27545760; 32107406
NCBI_gene_ID : 2070
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_017010368
Tx_version : 3
Tx_start : 133240592
Tx_end : 133532128
Exon_count : 20
Overlapped_tx_length : 291536
Overlapped_CDS_length : 1965
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133240592
Intersect_end : 133532128
603550; OMIM_ID : 603550;
OMIM_phenotype : ?Cardiomyopathy, dilated, 1J, 605362 (3) AD;
Deafness, AD 10, 601316 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.3304Exomiser_gene_pheno_score : 0.3304
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal palate bone morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
6:133240594-133532128; 6:133241357-133532128;[...]P_loss_coord : 6:133240594-133532128; 6:133241357-133532128; 6:133461095-133462784; 6:133462765-133464858; 6:133462765-133467609; 6:133506021-133528840; 6:133525016-133528805
P_loss_source : HI3:EYA4; dbVar:nssv15123008; dbVar:nssv15771048; dbVar:nssv16214266; dbVar:nssv17976660; dbVar:nssv18789740; morbid:EYA4
P_loss_phen : ?Cardiomyopathy, dilated, 1J, 605362 (3) AD; Deafness, AD 10, 601316 (3) AD
P_loss_hpo : .
25P_snvindel_nb : 25
P_snvindel_phen : Autosomal_dominant_nonsyndromic_hearing_loss_10; Dilated_cardiomyopathy_1J; EYA4-related_condition; Inborn_genetic_diseases; Nonsyndromic_genetic_hearing_loss
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
L3MBTL3Gene_name : L3MBTL3;
LOEUF_bin : 1
GnomAD_pLI : 9.9744e-01
ExAC_pLI : 9.9950e-01
HI : .
TS : .
DDD_HI_percent : 25.7
ACMG : .
ExAC_cnvZ : 0.0766558272849751
ExAC_delZ : 0.697086775887013
ExAC_dupZ : -0.279770767108891
ExAC_synZ : 0.087802907489915
ExAC_misZ : 0.671548616177629
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84456
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : XM_006715576
Tx_version : 4
Tx_start : 130018580
Tx_end : 130141438
Exon_count : 23
Overlapped_tx_length : 122858
Overlapped_CDS_length : 2448
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130018580
Intersect_end : 130141438
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.7941Exomiser_gene_pheno_score : 0.7941
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; polydactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
BCLAF1Gene_name : BCLAF1;
LOEUF_bin : 5
GnomAD_pLI : 2.0629e-14
ExAC_pLI : .
HI : 1
TS : 0
DDD_HI_percent : 4.44
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9774
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_014739
Tx_version : 3
Tx_start : 136256626
Tx_end : 136289846
Exon_count : 13
Overlapped_tx_length : 33220
Overlapped_CDS_length : 2763
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 136256626
Intersect_end : 136289846
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.7941Exomiser_gene_pheno_score : 0.7941
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; polydactyly
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96
B_loss_coord : chr6:135876891-160100724
B_loss_AFmax : 0.9040
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MED23Gene_name : MED23;
LOEUF_bin : 2
GnomAD_pLI : 3.1015e-08
ExAC_pLI : 1.5066e-01
HI : .
TS : .
DDD_HI_percent : 6.53
ACMG : .
ExAC_cnvZ : -0.373876400220749
ExAC_delZ : -0.664848636826207
ExAC_dupZ : -0.276776362124493
ExAC_synZ : -0.149210728755433
ExAC_misZ : 4.68045517089823
GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 18; syndromic intellectual disability
GenCC_moi : AR
GenCC_classification : Limited; Moderate; Strong; Supportive
GenCC_pmid : 21868677; 21868677[PMID]; 25845469; 27311965; 27457812; 30847200
NCBI_gene_ID : 9439
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001376517
Tx_version : 1
Tx_start : 131586754
Tx_end : 131628242
Exon_count : 30
Overlapped_tx_length : 41488
Overlapped_CDS_length : 4125
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131586754
Intersect_end : 131628242
605042; OMIM_ID : 605042;
OMIM_phenotype : Intellectual developmental disorder, AR 18, with or without epilepsy, 614249 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral content
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
6:131598715-131628242P_loss_coord : 6:131598715-131628242
P_loss_source : morbid:MED23
P_loss_phen : Intellectual developmental disorder, AR 18, with or without epilepsy, 614249 (3) AR
P_loss_hpo : .
6P_snvindel_nb : 6
P_snvindel_phen : Inborn_genetic_diseases; Intellectual_disability,_autosomal_recessive_18
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
CCN2Gene_name : CCN2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1490
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001901
Tx_version : 4
Tx_start : 131948175
Tx_end : 131951372
Exon_count : 5
Overlapped_tx_length : 3197
Overlapped_CDS_length : 1050
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131948175
Intersect_end : 131951372
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6565Exomiser_gene_pheno_score : 0.6565
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal bone ossification; abnormal sternum morphology
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
HBS1LGene_name : HBS1L;
LOEUF_bin : 3
GnomAD_pLI : 1.8606e-07
ExAC_pLI : 9.2452e-01
HI : .
TS : .
DDD_HI_percent : 18.25
ACMG : .
ExAC_cnvZ : 0.632849347076456
ExAC_delZ : 0.49403256764397
ExAC_dupZ : 0.537115607285543
ExAC_synZ : 1.00465512219928
ExAC_misZ : 0.0825227190642893
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10767
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_006620
Tx_version : 4
Tx_start : 134960377
Tx_end : 135054822
Exon_count : 18
Overlapped_tx_length : 94445
Overlapped_CDS_length : 2055
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134960377
Intersect_end : 135054822
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4535Exomiser_gene_pheno_score : 0.4535
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal cranium morphology; abnormal tail morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TCF21Gene_name : TCF21;
LOEUF_bin : 2
GnomAD_pLI : 8.2553e-01
ExAC_pLI : 8.0537e-01
HI : .
TS : .
DDD_HI_percent : 7.41
ACMG : .
ExAC_cnvZ : 0.837221682663089
ExAC_delZ : 0.387680106608303
ExAC_dupZ : 0.744334725353376
ExAC_synZ : 2.28759818130434
ExAC_misZ : 1.88044568553803
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6943
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_198392
Tx_version : 3
Tx_start : 133889112
Tx_end : 133895537
Exon_count : 3
Overlapped_tx_length : 6425
Overlapped_CDS_length : 540
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133889112
Intersect_end : 133895537
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4180Exomiser_gene_pheno_score : 0.4180
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
AKAP7Gene_name : AKAP7;
LOEUF_bin : 6
GnomAD_pLI : 2.8942e-07
ExAC_pLI : 1.5988e-03
HI : .
TS : .
DDD_HI_percent : 52.79
ACMG : .
ExAC_cnvZ : 0.417109671607168
ExAC_delZ : 0.826020682988162
ExAC_dupZ : 0.0584299784693874
ExAC_synZ : 0.281076723285336
ExAC_misZ : -1.49388894123245
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9465
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_017011506
Tx_version : 2
Tx_start : 131135466
Tx_end : 131237552
Exon_count : 8
Overlapped_tx_length : 102086
Overlapped_CDS_length : 1152
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131135466
Intersect_end : 131237552
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4187Exomiser_gene_pheno_score : 0.4187
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
ARG1Gene_name : ARG1;
LOEUF_bin : 5
GnomAD_pLI : 3.5944e-04
ExAC_pLI : 4.9988e-04
HI : 30
TS : 0
DDD_HI_percent : 33.51
ACMG : .
ExAC_cnvZ : -0.870890780703319
ExAC_delZ : -1.08786680767181
ExAC_dupZ : -0.705329878519116
ExAC_synZ : -0.463912096357438
ExAC_misZ : -0.493582858578367
GenCC_disease : hyperargininemia
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 10502833; 12052859; 1463019; 1598908; 20301338[PMID]; 2365823; 27570396; 7649538
NCBI_gene_ID : 383
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001244438
Tx_version : 2
Tx_start : 131573225
Tx_end : 131584329
Exon_count : 8
Overlapped_tx_length : 11104
Overlapped_CDS_length : 993
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131573225
Intersect_end : 131584329
608313; OMIM_ID : 608313;
OMIM_phenotype : Argininemia, 207800 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.01
.RE_gene : .
6:131573226-131584329; 6:131576654-131583918;[...]P_loss_coord : 6:131573226-131584329; 6:131576654-131583918; 6:131579078-131581388; 6:131582441-131582677
P_loss_source : dbVar:nssv15770692; dbVar:nssv17968989; dbVar:nssv18791029; morbid:ARG1
P_loss_phen : Argininemia, 207800 (3) AR
P_loss_hpo : .
61P_snvindel_nb : 61
P_snvindel_phen : Arginase_deficiency; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR8Gene_name : TAAR8;
LOEUF_bin : 8
GnomAD_pLI : 2.8158e-04
ExAC_pLI : 3.0311e-04
HI : .
TS : .
DDD_HI_percent : 81.11
ACMG : .
ExAC_cnvZ : 0.83819790782893
ExAC_delZ : 0.886576338035517
ExAC_dupZ : 0.660266605041426
ExAC_synZ : -0.825719456118495
ExAC_misZ : -1.11505413010578
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83551
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_053278
Tx_version : 3
Tx_start : 132552671
Tx_end : 132553756
Exon_count : 1
Overlapped_tx_length : 1085
Overlapped_CDS_length : 1029
Overlapped_CDS_percent : 96
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132552671
Intersect_end : 132553756
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.4007Exomiser_gene_pheno_score : 0.4007
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR6Gene_name : TAAR6;
LOEUF_bin : 5
GnomAD_pLI : 1.6668e-02
ExAC_pLI : 1.5313e-01
HI : .
TS : .
DDD_HI_percent : 69.58
ACMG : .
ExAC_cnvZ : 0.460756206998486
ExAC_delZ : 0.466867349257878
ExAC_dupZ : 0.356609734759306
ExAC_synZ : -1.86171269807786
ExAC_misZ : -2.33958652256987
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 319100
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_175067
Tx_version : 1
Tx_start : 132570321
Tx_end : 132571359
Exon_count : 1
Overlapped_tx_length : 1038
Overlapped_CDS_length : 1038
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132570321
Intersect_end : 132571359
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
PDE7BGene_name : PDE7B;
LOEUF_bin : 1
GnomAD_pLI : 5.4578e-01
ExAC_pLI : 9.4645e-01
HI : .
TS : .
DDD_HI_percent : 19.84
ACMG : .
ExAC_cnvZ : 1.0237200325896
ExAC_delZ : 0.920371553191268
ExAC_dupZ : 0.752820117543276
ExAC_synZ : -0.0535276956213167
ExAC_misZ : 1.1169303700937
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27115
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_018945
Tx_version : 4
Tx_start : 135851700
Tx_end : 136195574
Exon_count : 13
Overlapped_tx_length : 343874
Overlapped_CDS_length : 1353
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135851700
Intersect_end : 136195574
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MAP7Gene_name : MAP7;
LOEUF_bin : 1
GnomAD_pLI : 4.2439e-01
ExAC_pLI : 9.2988e-01
HI : .
TS : .
DDD_HI_percent : 48.78
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.0140117831780703
ExAC_misZ : 0.200580568159824
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9053
intron1-txEndLocation : intron1-txEnd
CytoBand : q23.3
Location2 : CDS-3'UTR
Tx : XM_011536243
Tx_version : 3
Tx_start : 136342733
Tx_end : 136466878
Exon_count : 18
Overlapped_tx_length : 114926
Overlapped_CDS_length : 2207
Overlapped_CDS_percent : 99
Frameshift : yes
Dist_nearest_SS : 9101
Nearest_SS_type : 5'
Intersect_start : 136342733
Intersect_end : 136457659
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96
B_loss_coord : chr6:135876891-160100724
B_loss_AFmax : 0.9040
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
EPB41L2Gene_name : EPB41L2;
LOEUF_bin : 1
GnomAD_pLI : 9.9318e-01
ExAC_pLI : 9.9388e-01
HI : .
TS : .
DDD_HI_percent : 29.86
ACMG : .
ExAC_cnvZ : -0.346140492847593
ExAC_delZ : -0.0325396495173831
ExAC_dupZ : -0.551099193788389
ExAC_synZ : -1.10248132942072
ExAC_misZ : -0.32203632671508
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 2037
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1-q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001350299
Tx_version : 2
Tx_start : 130839346
Tx_end : 130970339
Exon_count : 22
Overlapped_tx_length : 130993
Overlapped_CDS_length : 3174
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130839346
Intersect_end : 130970339
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TMEM200AGene_name : TMEM200A;
LOEUF_bin : 2
GnomAD_pLI : 8.5062e-01
ExAC_pLI : 8.3525e-01
HI : .
TS : .
DDD_HI_percent : 45.72
ACMG : .
ExAC_cnvZ : -0.0585477678076354
ExAC_delZ : 0.229942616922398
ExAC_dupZ : -0.271940736003974
ExAC_synZ : -0.275595144932252
ExAC_misZ : -0.0316906107459739
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 114801
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : XM_005266816
Tx_version : 4
Tx_start : 130365530
Tx_end : 130443067
Exon_count : 5
Overlapped_tx_length : 77537
Overlapped_CDS_length : 1476
Overlapped_CDS_percent : 55
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130365530
Intersect_end : 130443067
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
RPS12Gene_name : RPS12;
LOEUF_bin : 2
GnomAD_pLI : 8.8531e-01
ExAC_pLI : 8.2744e-01
HI : .
TS : .
DDD_HI_percent : 12.73
ACMG : .
ExAC_cnvZ : -0.264102676019071
ExAC_delZ : -0.298576454957788
ExAC_dupZ : -0.247123086875932
ExAC_synZ : -0.888922467234722
ExAC_misZ : 0.543218521003271
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6183
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001016
Tx_version : 4
Tx_start : 132814568
Tx_end : 132817564
Exon_count : 6
Overlapped_tx_length : 2996
Overlapped_CDS_length : 399
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132814568
Intersect_end : 132817564
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SGK1Gene_name : SGK1;
LOEUF_bin : 2
GnomAD_pLI : 2.3046e-03
ExAC_pLI : 9.8645e-01
HI : .
TS : .
DDD_HI_percent : 3.54
ACMG : .
ExAC_cnvZ : 0.462160096776201
ExAC_delZ : 0.075058156692747
ExAC_dupZ : 0.582437825851999
ExAC_synZ : 0.334902940000469
ExAC_misZ : 1.13059005265298
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6446
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001143676
Tx_version : 3
Tx_start : 134169255
Tx_end : 134318112
Exon_count : 14
Overlapped_tx_length : 148857
Overlapped_CDS_length : 1581
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134169255
Intersect_end : 134318112
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TBPL1Gene_name : TBPL1;
LOEUF_bin : 3
GnomAD_pLI : 3.7902e-01
ExAC_pLI : 8.7962e-01
HI : .
TS : .
DDD_HI_percent : 4.15
ACMG : .
ExAC_cnvZ : 0.692044299017714
ExAC_delZ : 0.0385751670255677
ExAC_dupZ : 0.849854217031147
ExAC_synZ : 0.784635765398517
ExAC_misZ : 2.24883010499313
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9519
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001253676
Tx_version : 2
Tx_start : 133952173
Tx_end : 133990432
Exon_count : 7
Overlapped_tx_length : 38259
Overlapped_CDS_length : 561
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133952173
Intersect_end : 133990432
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
ARHGAP18Gene_name : ARHGAP18;
LOEUF_bin : 4
GnomAD_pLI : 8.4436e-12
ExAC_pLI : 2.4596e-06
HI : .
TS : .
DDD_HI_percent : 40.56
ACMG : .
ExAC_cnvZ : -0.625145281701932
ExAC_delZ : -0.824711572758474
ExAC_dupZ : -0.507783319021181
ExAC_synZ : -0.521009633306749
ExAC_misZ : 0.146339065926012
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 93663
txStart-txEndLocation : txStart-txEnd
CytoBand : q22.33
Location2 : 5'UTR-3'UTR
Tx : NM_033515
Tx_version : 3
Tx_start : 129576131
Tx_end : 129710177
Exon_count : 15
Overlapped_tx_length : 134046
Overlapped_CDS_length : 1992
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129576131
Intersect_end : 129710177
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SLC2A12Gene_name : SLC2A12;
LOEUF_bin : 4
GnomAD_pLI : 5.5510e-05
ExAC_pLI : 1.9408e-02
HI : .
TS : .
DDD_HI_percent : 53.14
ACMG : .
ExAC_cnvZ : 0.178662715986944
ExAC_delZ : -0.413772362470663
ExAC_dupZ : 0.485371437899009
ExAC_synZ : -1.48171659289294
ExAC_misZ : -0.0412340612756398
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 154091
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_145176
Tx_version : 3
Tx_start : 133987580
Tx_end : 134052624
Exon_count : 5
Overlapped_tx_length : 65044
Overlapped_CDS_length : 1854
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133987580
Intersect_end : 134052624
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
STX7Gene_name : STX7;
LOEUF_bin : 5
GnomAD_pLI : 5.0273e-06
ExAC_pLI : 4.2631e-03
HI : .
TS : .
DDD_HI_percent : 21.5
ACMG : .
ExAC_cnvZ : 0.936704716543205
ExAC_delZ : 0.809786329345821
ExAC_dupZ : 0.684467618519702
ExAC_synZ : -0.763908423019128
ExAC_misZ : -0.116690447542069
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8417
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001326579
Tx_version : 2
Tx_start : 132445866
Tx_end : 132513472
Exon_count : 10
Overlapped_tx_length : 67606
Overlapped_CDS_length : 786
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132445866
Intersect_end : 132513472
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
VNN1Gene_name : VNN1;
LOEUF_bin : 5
GnomAD_pLI : 4.3868e-06
ExAC_pLI : 2.3547e-07
HI : .
TS : .
DDD_HI_percent : 71.36
ACMG : .
ExAC_cnvZ : -0.764628327928276
ExAC_delZ : -0.733276063689322
ExAC_dupZ : -0.736854355550154
ExAC_synZ : -0.352951946736433
ExAC_misZ : -1.69133645586155
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8876
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_004666
Tx_version : 3
Tx_start : 132680848
Tx_end : 132714055
Exon_count : 7
Overlapped_tx_length : 33207
Overlapped_CDS_length : 1542
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132680848
Intersect_end : 132714055
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
ENPP3Gene_name : ENPP3;
LOEUF_bin : 5
GnomAD_pLI : 3.4680e-23
ExAC_pLI : 6.4375e-17
HI : .
TS : .
DDD_HI_percent : 58.41
ACMG : .
ExAC_cnvZ : -0.322670411819043
ExAC_delZ : -0.0211344272593469
ExAC_dupZ : -0.525795120387414
ExAC_synZ : -0.722340985551073
ExAC_misZ : -0.947656338398151
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5169
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_005021
Tx_version : 5
Tx_start : 131637301
Tx_end : 131747410
Exon_count : 25
Overlapped_tx_length : 110109
Overlapped_CDS_length : 2628
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131637301
Intersect_end : 131747410
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MTFR2Gene_name : MTFR2;
LOEUF_bin : 6
GnomAD_pLI : 2.6584e-06
ExAC_pLI : 1.5154e-04
HI : .
TS : .
DDD_HI_percent : 76.82
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.0239255362145256
ExAC_misZ : -0.698332222854525
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 113115
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_001099286
Tx_version : 3
Tx_start : 136231033
Tx_end : 136250311
Exon_count : 8
Overlapped_tx_length : 19278
Overlapped_CDS_length : 1158
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 136231033
Intersect_end : 136250311
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96
B_loss_coord : chr6:135876891-160100724
B_loss_AFmax : 0.9040
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TMEM244Gene_name : TMEM244;
LOEUF_bin : 6
GnomAD_pLI : 1.0646e-02
ExAC_pLI : 3.7088e-02
HI : .
TS : .
DDD_HI_percent : 66.6
ACMG : .
ExAC_cnvZ : -0.204856797253081
ExAC_delZ : 0.777843304532889
ExAC_dupZ : -0.660423882826055
ExAC_synZ : -0.357230783334687
ExAC_misZ : -1.27221182379969
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 253582
txStart-txEndLocation : txStart-txEnd
CytoBand : q22.33
Location2 : 5'UTR-3'UTR
Tx : NM_001010876
Tx_version : 2
Tx_start : 129831243
Tx_end : 129861315
Exon_count : 5
Overlapped_tx_length : 30072
Overlapped_CDS_length : 387
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129831243
Intersect_end : 129861315
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SAMD3Gene_name : SAMD3;
LOEUF_bin : 6
GnomAD_pLI : 1.5324e-15
ExAC_pLI : 1.0971e-06
HI : .
TS : .
DDD_HI_percent : 49.83
ACMG : .
ExAC_cnvZ : -0.4781191791724
ExAC_delZ : 0.671935105132299
ExAC_dupZ : -0.93532638725869
ExAC_synZ : -2.02784001352573
ExAC_misZ : -1.5293968173127
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 154075
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001277185
Tx_version : 2
Tx_start : 130144314
Tx_end : 130215887
Exon_count : 11
Overlapped_tx_length : 71573
Overlapped_CDS_length : 1635
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130144314
Intersect_end : 130215887
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MOXD1Gene_name : MOXD1;
LOEUF_bin : 7
GnomAD_pLI : 1.5505e-22
ExAC_pLI : 8.9912e-11
HI : .
TS : .
DDD_HI_percent : 49.43
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.313619681763931
ExAC_misZ : -1.65498209142755
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26002
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_015529
Tx_version : 4
Tx_start : 132296054
Tx_end : 132401475
Exon_count : 12
Overlapped_tx_length : 105421
Overlapped_CDS_length : 1842
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132296054
Intersect_end : 132401475
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR1Gene_name : TAAR1;
LOEUF_bin : 7
GnomAD_pLI : 3.9183e-04
ExAC_pLI : 2.8370e-04
HI : .
TS : .
DDD_HI_percent : 54.25
ACMG : .
ExAC_cnvZ : 0.0321131024079369
ExAC_delZ : 0.551502065069197
ExAC_dupZ : -0.301464636648797
ExAC_synZ : -0.808780619125819
ExAC_misZ : -2.12022542190972
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 134864
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_138327
Tx_version : 4
Tx_start : 132643311
Tx_end : 132659182
Exon_count : 2
Overlapped_tx_length : 15871
Overlapped_CDS_length : 1020
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132643311
Intersect_end : 132659182
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
ALDH8A1Gene_name : ALDH8A1;
LOEUF_bin : 7
GnomAD_pLI : 2.4846e-12
ExAC_pLI : 9.4563e-06
HI : .
TS : .
DDD_HI_percent : 50.43
ACMG : .
ExAC_cnvZ : 0.636244288364203
ExAC_delZ : -0.0479421615135615
ExAC_dupZ : 0.83784463453695
ExAC_synZ : 0.292252078311897
ExAC_misZ : -0.0725018541591562
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64577
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : 5'UTR-3'UTR
Tx : NM_022568
Tx_version : 4
Tx_start : 134917392
Tx_end : 134950101
Exon_count : 7
Overlapped_tx_length : 32709
Overlapped_CDS_length : 1464
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134917392
Intersect_end : 134950101
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
VNN2Gene_name : VNN2;
LOEUF_bin : 8
GnomAD_pLI : 4.4480e-15
ExAC_pLI : 1.0189e-08
HI : .
TS : .
DDD_HI_percent : 85.31
ACMG : .
ExAC_cnvZ : -1.10275366326849
ExAC_delZ : -1.38581098169326
ExAC_dupZ : -0.910242646424276
ExAC_synZ : -0.771514508408535
ExAC_misZ : -1.33267730788279
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8875
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_047419477
Tx_version : 1
Tx_start : 132743869
Tx_end : 132763455
Exon_count : 8
Overlapped_tx_length : 19586
Overlapped_CDS_length : 1563
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132743869
Intersect_end : 132763455
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SMLR1Gene_name : SMLR1;
LOEUF_bin : 8
GnomAD_pLI : 1.9896e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 88.46
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507203
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : 5'UTR-3'UTR
Tx : NM_001195597
Tx_version : 2
Tx_start : 130827405
Tx_end : 130837135
Exon_count : 2
Overlapped_tx_length : 9730
Overlapped_CDS_length : 324
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130827405
Intersect_end : 130837135
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SLC18B1Gene_name : SLC18B1;
LOEUF_bin : 8
GnomAD_pLI : 1.0193e-17
ExAC_pLI : 3.9468e-10
HI : .
TS : .
DDD_HI_percent : 63.25
ACMG : .
ExAC_cnvZ : -1.25729920171256
ExAC_delZ : -0.440884256599318
ExAC_dupZ : -1.69012769918885
ExAC_synZ : -0.0787109341829023
ExAC_misZ : -1.98332206754653
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 116843
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_052831
Tx_version : 3
Tx_start : 132769369
Tx_end : 132798637
Exon_count : 14
Overlapped_tx_length : 29268
Overlapped_CDS_length : 1371
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132769369
Intersect_end : 132798637
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR2Gene_name : TAAR2;
LOEUF_bin : 9
GnomAD_pLI : 7.6400e-11
ExAC_pLI : 3.4145e-06
HI : .
TS : .
DDD_HI_percent : 41.15
ACMG : .
ExAC_cnvZ : -0.110433348654116
ExAC_delZ : 0.329516829397542
ExAC_dupZ : -0.385684634463548
ExAC_synZ : -1.60330869498279
ExAC_misZ : -2.3671062869474
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9287
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001033080
Tx_version : 1
Tx_start : 132617149
Tx_end : 132624275
Exon_count : 2
Overlapped_tx_length : 7126
Overlapped_CDS_length : 1056
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132617149
Intersect_end : 132624275
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR5Gene_name : TAAR5;
LOEUF_bin : 9
GnomAD_pLI : 6.2057e-11
ExAC_pLI : 3.4575e-07
HI : .
TS : .
DDD_HI_percent : 67.24
ACMG : .
ExAC_cnvZ : -0.000125768613592575
ExAC_delZ : 0.220394878714205
ExAC_dupZ : -0.189312837451224
ExAC_synZ : -0.407432077880692
ExAC_misZ : -1.90724354676952
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9038
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001389527
Tx_version : 1
Tx_start : 132588591
Tx_end : 132616747
Exon_count : 4
Overlapped_tx_length : 28156
Overlapped_CDS_length : 1014
Overlapped_CDS_percent : 95
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132588591
Intersect_end : 132616747
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
OR2A4Gene_name : OR2A4;
LOEUF_bin : 9
GnomAD_pLI : 1.1869e-01
ExAC_pLI : 6.8483e-01
HI : .
TS : .
DDD_HI_percent : 90.09
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 3.32467390756765
ExAC_misZ : 3.81661437455078
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79541
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_030908
Tx_version : 2
Tx_start : 131699643
Tx_end : 131701401
Exon_count : 1
Overlapped_tx_length : 1758
Overlapped_CDS_length : 933
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131699643
Intersect_end : 131701401
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LINC02524Gene_name : LINC02524;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105378013
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_183501
Tx_version : 1
Tx_start : 135628786
Tx_end : 135634681
Exon_count : 3
Overlapped_tx_length : 5895
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135628786
Intersect_end : 135634681
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr6:135519297-135721567
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
VNN3PGene_name : VNN3P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55350
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_173391
Tx_version : 1
Tx_start : 132722786
Tx_end : 132734765
Exon_count : 7
Overlapped_tx_length : 11979
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132722786
Intersect_end : 132734765
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SNORD100Gene_name : SNORD100;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 594838
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_002435
Tx_version : 1
Tx_start : 132816801
Tx_end : 132816877
Exon_count : 1
Overlapped_tx_length : 76
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132816801
Intersect_end : 132816877
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR9Gene_name : TAAR9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 134860
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_175057
Tx_version : 4
Tx_start : 132538276
Tx_end : 132539336
Exon_count : 1
Overlapped_tx_length : 1060
Overlapped_CDS_length : 1047
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132538276
Intersect_end : 132539336
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TARIDGene_name : TARID;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507308
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_109982
Tx_version : 1
Tx_start : 133502251
Tx_end : 133889006
Exon_count : 9
Overlapped_tx_length : 386755
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133502251
Intersect_end : 133889006
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
6:133506021-133528840; 6:133525016-133528805P_loss_coord : 6:133506021-133528840; 6:133525016-133528805
P_loss_source : dbVar:nssv15771048; dbVar:nssv16214266
P_loss_phen : .
P_loss_hpo : .
9P_snvindel_nb : 9
P_snvindel_phen : Autosomal_dominant_nonsyndromic_hearing_loss_10; Dilated_cardiomyopathy_1J; EYA4-related_condition
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LINC00326Gene_name : LINC00326;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 285735
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_026969
Tx_version : 1
Tx_start : 133088079
Tx_end : 133106578
Exon_count : 4
Overlapped_tx_length : 18499
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133088079
Intersect_end : 133106578
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr6:133087841-133108747
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
AHI1-DTGene_name : AHI1-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100131814
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_152842
Tx_version : 1
Tx_start : 135497800
Tx_end : 135716055
Exon_count : 6
Overlapped_tx_length : 218255
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135497800
Intersect_end : 135716055
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SNORD101Gene_name : SNORD101;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 594837
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_002434
Tx_version : 1
Tx_start : 132815306
Tx_end : 132815379
Exon_count : 1
Overlapped_tx_length : 73
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132815306
Intersect_end : 132815379
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
CTAGE9Gene_name : CTAGE9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 92.39
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 643854
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001145659
Tx_version : 1
Tx_start : 131708440
Tx_end : 131711017
Exon_count : 1
Overlapped_tx_length : 2577
Overlapped_CDS_length : 2334
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131708440
Intersect_end : 131711017
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LINC01312Gene_name : LINC01312;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 154089
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_027030
Tx_version : 1
Tx_start : 133821146
Tx_end : 133853992
Exon_count : 3
Overlapped_tx_length : 32846
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133821146
Intersect_end : 133853992
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LINC01013Gene_name : LINC01013;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507254
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_187602
Tx_version : 1
Tx_start : 132132571
Tx_end : 132169374
Exon_count : 6
Overlapped_tx_length : 36803
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132132571
Intersect_end : 132169374
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr6:132013279-132300375
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MIR3662Gene_name : MIR3662;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100500880
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_037435
Tx_version : 1
Tx_start : 134979337
Tx_end : 134979432
Exon_count : 1
Overlapped_tx_length : 95
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134979337
Intersect_end : 134979432
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LINC03002Gene_name : LINC03002;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928304
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_125855
Tx_version : 1
Tx_start : 134525317
Tx_end : 134540005
Exon_count : 4
Overlapped_tx_length : 14688
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134525317
Intersect_end : 134540005
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
HMGA1P7Gene_name : HMGA1P7;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387065
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_037938
Tx_version : 1
Tx_start : 134113961
Tx_end : 134117680
Exon_count : 2
Overlapped_tx_length : 3719
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134113961
Intersect_end : 134117680
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MIR548H5Gene_name : MIR548H5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616455
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_039610
Tx_version : 1
Tx_start : 131792171
Tx_end : 131792231
Exon_count : 1
Overlapped_tx_length : 60
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131792171
Intersect_end : 131792231
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr6:131783789-131805626; chr6:131792124-131797784
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
PDE7B-AS1Gene_name : PDE7B-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 644135
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_149042
Tx_version : 1
Tx_start : 136043851
Tx_end : 136072827
Exon_count : 4
Overlapped_tx_length : 28976
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 136043851
Intersect_end : 136072827
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96
B_loss_coord : chr6:135876891-160100724
B_loss_AFmax : 0.9040
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
CT69Gene_name : CT69;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928231
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_125852
Tx_version : 1
Tx_start : 134429029
Tx_end : 134478897
Exon_count : 5
Overlapped_tx_length : 49868
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134429029
Intersect_end : 134478897
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MIR548A2Gene_name : MIR548A2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 693126
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_030317
Tx_version : 1
Tx_start : 135239159
Tx_end : 135239256
Exon_count : 1
Overlapped_tx_length : 97
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135239159
Intersect_end : 135239256
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
MIR548AJ1Gene_name : MIR548AJ1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616191
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_039673
Tx_version : 1
Tx_start : 132115191
Tx_end : 132115263
Exon_count : 1
Overlapped_tx_length : 72
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132115191
Intersect_end : 132115263
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr6:132013279-132300375
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
SNORA33Gene_name : SNORA33;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 594839
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_002436
Tx_version : 1
Tx_start : 132817218
Tx_end : 132817351
Exon_count : 1
Overlapped_tx_length : 133
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132817218
Intersect_end : 132817351
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LINC01010Gene_name : LINC01010;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 154092
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_038216
Tx_version : 1
Tx_start : 134437715
Tx_end : 134504020
Exon_count : 3
Overlapped_tx_length : 66305
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134437715
Intersect_end : 134504020
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
CCN2-AS1Gene_name : CCN2-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 122152366
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_187593
Tx_version : 1
Tx_start : 131901951
Tx_end : 132102325
Exon_count : 3
Overlapped_tx_length : 200374
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131901951
Intersect_end : 132102325
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
TAAR3PGene_name : TAAR3P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9288
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : NR_028511
Tx_version : 1
Tx_start : 132608224
Tx_end : 132609302
Exon_count : 1
Overlapped_tx_length : 1078
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132608224
Intersect_end : 132609302
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC101928373Gene_name : LOC101928373;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : NR_187606
Tx_version : 1
Tx_start : 135854035
Tx_end : 135880840
Exon_count : 4
Overlapped_tx_length : 26805
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135854035
Intersect_end : 135880840
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105377999Gene_name : LOC105377999;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22.33
Location2 : UTR
Tx : XR_942986
Tx_version : 3
Tx_start : 129855627
Tx_end : 129947908
Exon_count : 8
Overlapped_tx_length : 92281
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129855627
Intersect_end : 129947908
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378008Gene_name : LOC105378008;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_001744346
Tx_version : 1
Tx_start : 132876599
Tx_end : 132958185
Exon_count : 8
Overlapped_tx_length : 81586
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132876599
Intersect_end : 132958185
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378010Gene_name : LOC105378010;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_943010
Tx_version : 2
Tx_start : 135106844
Tx_end : 135110417
Exon_count : 3
Overlapped_tx_length : 3573
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135106844
Intersect_end : 135110417
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901531Gene_name : LOC124901531;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007059962
Tx_version : 1
Tx_start : 134206410
Tx_end : 134206514
Exon_count : 1
Overlapped_tx_length : 104
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134206410
Intersect_end : 134206514
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC128092253Gene_name : LOC128092253;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : NM_001414965
Tx_version : 1
Tx_start : 133953303
Tx_end : 133980088
Exon_count : 2
Overlapped_tx_length : 26785
Overlapped_CDS_length : 129
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133953303
Intersect_end : 133980088
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378005Gene_name : LOC105378005;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_001744344
Tx_version : 2
Tx_start : 131351167
Tx_end : 131443796
Exon_count : 5
Overlapped_tx_length : 92629
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131351167
Intersect_end : 131443796
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901408Gene_name : LOC124901408;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007059784
Tx_version : 1
Tx_start : 136290013
Tx_end : 136306074
Exon_count : 4
Overlapped_tx_length : 16061
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 136290013
Intersect_end : 136306074
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96
B_loss_coord : chr6:135876891-160100724
B_loss_AFmax : 0.9040
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC107986644Gene_name : LOC107986644;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_001744345
Tx_version : 3
Tx_start : 132804357
Tx_end : 132814288
Exon_count : 3
Overlapped_tx_length : 9931
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 132804357
Intersect_end : 132814288
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378009Gene_name : LOC105378009;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_943002
Tx_version : 3
Tx_start : 134335809
Tx_end : 134348431
Exon_count : 2
Overlapped_tx_length : 12622
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134335809
Intersect_end : 134348431
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901231Gene_name : LOC124901231;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : 5'UTR-3'UTR
Tx : XM_047419612
Tx_version : 1
Tx_start : 133240319
Tx_end : 133253594
Exon_count : 3
Overlapped_tx_length : 13275
Overlapped_CDS_length : 1146
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133240319
Intersect_end : 133253594
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC112267974Gene_name : LOC112267974;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_002956398
Tx_version : 2
Tx_start : 130308480
Tx_end : 130323502
Exon_count : 3
Overlapped_tx_length : 15022
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130308480
Intersect_end : 130323502
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378004Gene_name : LOC105378004;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_942993
Tx_version : 3
Tx_start : 131063402
Tx_end : 131075178
Exon_count : 3
Overlapped_tx_length : 11776
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131063402
Intersect_end : 131075178
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC102723409Gene_name : LOC102723409;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22.33
Location2 : UTR
Tx : XR_001743860
Tx_version : 2
Tx_start : 129492481
Tx_end : 129569566
Exon_count : 8
Overlapped_tx_length : 77085
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129492481
Intersect_end : 129569566
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
6:129502640-129514615; 6:129505191-129505365;[...]P_loss_coord : 6:129502640-129514615; 6:129505191-129505365; 6:129516171-129516367; 6:129516181-129516357
P_loss_source : dbVar:nssv15129201; dbVar:nssv15129438; dbVar:nssv17172533; dbVar:nssv18789162
P_loss_phen : .
P_loss_hpo : .
53P_snvindel_nb : 53
P_snvindel_phen : Abnormality_of_the_musculature; Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency; Inborn_genetic_diseases; LAMA2-related_muscular_dystrophy; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901405Gene_name : LOC124901405;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007059775
Tx_version : 1
Tx_start : 135054892
Tx_end : 135061346
Exon_count : 2
Overlapped_tx_length : 6454
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135054892
Intersect_end : 135061346
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901406Gene_name : LOC124901406;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007059776
Tx_version : 1
Tx_start : 135057717
Tx_end : 135058736
Exon_count : 2
Overlapped_tx_length : 1019
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135057717
Intersect_end : 135058736
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378003Gene_name : LOC105378003;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_942991
Tx_version : 2
Tx_start : 130741355
Tx_end : 130770671
Exon_count : 3
Overlapped_tx_length : 29316
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130741355
Intersect_end : 130770671
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901403Gene_name : LOC124901403;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007059773
Tx_version : 1
Tx_start : 133300653
Tx_end : 133323796
Exon_count : 2
Overlapped_tx_length : 23143
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133300653
Intersect_end : 133323796
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378002Gene_name : LOC105378002;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.1
Location2 : UTR
Tx : XR_942990
Tx_version : 2
Tx_start : 130719229
Tx_end : 130723459
Exon_count : 4
Overlapped_tx_length : 4230
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 130719229
Intersect_end : 130723459
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC102723445Gene_name : LOC102723445;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_428022
Tx_version : 3
Tx_start : 131084991
Tx_end : 131130361
Exon_count : 4
Overlapped_tx_length : 45370
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 131084991
Intersect_end : 131130361
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378012Gene_name : LOC105378012;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_943034
Tx_version : 3
Tx_start : 135796398
Tx_end : 135806171
Exon_count : 3
Overlapped_tx_length : 9773
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135796398
Intersect_end : 135806171
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901402Gene_name : LOC124901402;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007059772
Tx_version : 1
Tx_start : 133748933
Tx_end : 133772196
Exon_count : 3
Overlapped_tx_length : 23263
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 133748933
Intersect_end : 133772196
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901407Gene_name : LOC124901407;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_007059783
Tx_version : 1
Tx_start : 135323383
Tx_end : 135327965
Exon_count : 2
Overlapped_tx_length : 4582
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135323383
Intersect_end : 135327965
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901404Gene_name : LOC124901404;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2
Location2 : UTR
Tx : XR_007059774
Tx_version : 1
Tx_start : 134082046
Tx_end : 134121433
Exon_count : 3
Overlapped_tx_length : 39387
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134082046
Intersect_end : 134121433
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC101928277Gene_name : LOC101928277;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.2-q23.3
Location2 : UTR
Tx : XR_001744364
Tx_version : 2
Tx_start : 134673888
Tx_end : 134879364
Exon_count : 5
Overlapped_tx_length : 205476
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 134673888
Intersect_end : 134879364
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC101928326Gene_name : LOC101928326;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_245604
Tx_version : 4
Tx_start : 135807144
Tx_end : 135809857
Exon_count : 2
Overlapped_tx_length : 2713
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135807144
Intersect_end : 135809857
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC105378011Gene_name : LOC105378011;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q23.3
Location2 : UTR
Tx : XR_001744368
Tx_version : 2
Tx_start : 135195894
Tx_end : 135236195
Exon_count : 3
Overlapped_tx_length : 40301
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 135195894
Intersect_end : 135236195
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 7000000
splitAnnotation_mode : split
LOC124901401Gene_name : LOC124901401;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q22.33
Location2 : UTR
Tx : XR_007059767
Tx_version : 1
Tx_start : 129479612
Tx_end : 129486474
Exon_count : 2
Overlapped_tx_length : 6862
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 129479612
Intersect_end : 129486474
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
7P_snvindel_nb : 7
P_snvindel_phen : Congenital_Muscular_Dystrophy,_LAMA2-related; Inborn_genetic_diseases; LAMA2-related_muscular_dystrophy; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.1
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5G (NPHP1, +0.10): The patient phenotype is nonspecific, but is consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.5).
DELSV_type : DEL
SV_length : 84420
Gene_count : 2
fullAnnotation_mode : full
NPHP1; MTLN; [...2genes]Gene_name : NPHP1; MTLN;
LOEUF_bin : 5
GnomAD_pLI : 1.2410e-17
ExAC_pLI : 1.3652e-08
HI : .
TS : .
DDD_HI_percent : 60.82
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.872632456119582
ExAC_misZ : -0.762902587480443
Closest_left : MIR4436B1
Closest_right : LOC124906059
.Location : .
CytoBand : q13
607100; OMIM_ID : 607100;
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6252Exomiser_gene_pheno_score : 0.6252
CPhenoGenius_specificity : C
.RE_gene : .
2:110144494-110150256; 2:110147940-110205013;[...]P_loss_coord : 2:110144494-110150256; 2:110147940-110205013; 2:110163049-110204968; 2:110201282-110201487
P_loss_source : dbVar:nssv15144285; dbVar:nssv16214552; dbVar:nssv18786491; morbid:NPHP1
P_loss_phen : Joubert syndrome 4, 609583 (3) AR; Nephronophthisis 1, juvenile, 256100 (3) AR; Senior-Loken syndrome-1, 266900 (3) AR
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15146967; dbVar:nssv15152708; dbVar:nssv16254438; dbVar:nssv15147710; dbVar:nssv15147572; dbVar:nssv18326571; dbVar:nssv15132387; dbVar:nssv15137765; dbVar:nssv15605771; dbVar:nssv17955613; dbVar:nssv17976057; dbVar:nssv18830912; dbVar:nssv16213219; dbVar:nssv15773532; dbVar:nssv15129183; dbVar:nssv15130011; dbVar:nssv15131820; dbVar:nssv15605994; dbVar:nssv15772989; dbVar:nssv15772328; nssv15774211; nssv15774285; dbVar:nssv15772491; nssv15775499; nssv15776760; dbVar:nssv15774572; dbVar:nssv15771873; nssv15772143; nssv15772267; nssv15772410; nssv15772683; nssv15772830; nssv15772883; nssv15772986; nssv15773184; nssv15773192; nssv15773193; nssv15773216; nssv15773344; nssv15773490; nssv15773586; nssv15773592; nssv15774228; nssv15774258; nssv15774274; nssv15774303; nssv15774350; nssv15774371; nssv15774453; nssv15774504; nssv15774698; nssv15774854; nssv15774857; nssv15775131; nssv15775222; nssv15775224; nssv15775390; nssv15775550; nssv15775566; nssv15775582; nssv15775799; nssv15775990; nssv15776257; nssv15776295; nssv15776393; nssv15776468; nssv15776540; nssv15776557; nssv15776597; nssv15776675; nssv15776681; nssv15776714; nssv15776737; nssv15776757; dbVar:nssv15774774; dbVar:nssv15773638; dbVar:nssv15775369; dbVar:nssv15771934; nssv15773028; dbVar:nssv15771956; dbVar:nssv15774260; dbVar:nssv15129976; dbVar:nssv17171517; dbVar:nssv18841842; dbVar:nssv17649959; dbVar:nssv15123350; nssv16216823; nssv18786390; nssv18786391; dbVar:nssv17649885; dbVar:nssv15123488; dbVar:nssv15130851; dbVar:nssv16212793; dbVar:nssv17973077; dbVar:nssv18841876; nssv15144384; dbVar:nssv15152818
po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:105806854-114297251; 2:106404327-110608419; 2:106413225-112430165; 2:108940172-116812576; 2:109181792-124900803; 2:109746742-110608419; 2:110025660-110371270; 2:110066681-110225841; 2:110067381-110226126; 2:110069920-110205214; 2:110091574-110205023; 2:110091574-110212811; 2:110091604-110204968; 2:110095228-110223342; 2:110095384-110217525; 2:110095947-110226893; 2:110104901-110207160; 2:110104901-110226126; 2:110106251-110222718; 2:110106251-110223342; 2:110106251-110224640; 2:110106251-110229135; 2:110113932-110223342; 2:110116258-110215738; 2:110116258-110217676; 2:110116258-110223342; 2:110116258-110224640; 2:110116258-110225841; 2:110116258-110231130; 2:110118113-110209952; 2:110122337-110206062; 2:110123183-110205164; 2:110123317-110205082; 2:110123337-110205062; 2:110123349-110205013; 2:110123661-110206271; 2:110123772-110204988; 2:110123792-110201494; 2:110123792-110201514; 2:110123792-110204968; 2:110222718-112379952
po_P_loss_percent : 0.09; 0.08; 0.04; 0.99; 2.01; 1.40; 1.07; 0.54; 9.80; 24.43; 53.04; 53.18; 49.38; 58.72; 61.37; 58.72; 65.89; 64.78; 64.47; 67.24; 69.64; 72.39; 72.10; 71.31; 68.70; 77.16; 77.74; 78.16; 78.84; 77.89; 77.04; 73.49; 77.91; 80.81; 81.43; 81.55; 81.56; 81.56; 82.15; 81.98; 81.20; 81.20; 82.00; 0.00
41P_snvindel_nb : 41
P_snvindel_phen : Inborn_genetic_diseases; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_renal_defect; NPHP1-Related_Disorders; NPHP1-related_condition; Nephronophthisis; Nephronophthisis_1; Senior-Loken_syndrome_1
dbVar; gnomAD-SV_v3_DEL_chr2_8881e883B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883
B_loss_coord : chr2:106014408-123234450; chr2:110094922-110231423; chr2:110095276-110225397
B_loss_AFmax : 0.2151
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr2:110094922-110231423 dbVar; chr2:110096262-110194743 dbVar; chr2:110187644-110188357 dbVar; chr2:110187652-110188317 dbVar;
po_B_loss_someG_coord : chr2:106014408-123234450 gnomAD-SV_v3_DEL_chr2_8881e883; chr2:110095276-110225397 dbVar; chr2:110139413-110160345 dbVar; 2:110187650-110188317 DDD:6962; chr2:110212292-110212328 HPRC:pbsv.DEL.8139
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:110135954-110138326
Repeat_type_left : L1PA4
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:110222825-110223134
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.460
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 84420
splitAnnotation_mode : split
NPHP1Gene_name : NPHP1;
LOEUF_bin : 5
GnomAD_pLI : 1.2410e-17
ExAC_pLI : 1.3652e-08
HI : 30
TS : 0
DDD_HI_percent : 60.82
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.872632456119582
ExAC_misZ : -0.762902587480443
GenCC_disease : Bardet-Biedl syndrome; Joubert syndrome with renal defect; Senior-Loken syndrome; nephronophthisis 1
GenCC_moi : AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 10839884; 20615230[PMID]_20301500[PMID]; 22819833[PMID]; 23559409; 24746959[PMID]; 8852662; 9326933; 9382140; NULL
NCBI_gene_ID : 4867
txStart-intron16Location : txStart-intron16
CytoBand : q13
Location2 : 5'UTR-CDS
Tx : NM_000272
Tx_version : 5
Tx_start : 110123347
Tx_end : 110205013
Exon_count : 20
Overlapped_tx_length : 66610
Overlapped_CDS_length : 1697
Overlapped_CDS_percent : 77
Frameshift : yes
Dist_nearest_SS : 5138
Nearest_SS_type : 5'
Intersect_start : 110138403
Intersect_end : 110205013
607100; OMIM_ID : 607100;
OMIM_phenotype : Joubert syndrome 4, 609583 (3) AR;
Nephronophthisis 1, juvenile, 256100 (3) AR;
Senior-Loken syndrome-1, 266900 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6252Exomiser_gene_pheno_score : 0.6252
Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Hand polydactyly; Joubert syndrome with renal defect
Mouse_pheno_evidence : Craniosynostosis; retina degeneration
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.18
.RE_gene : .
2:110144494-110150256; 2:110147940-110205013;[...]P_loss_coord : 2:110144494-110150256; 2:110147940-110205013; 2:110163049-110204968; 2:110201282-110201487
P_loss_source : dbVar:nssv15144285; dbVar:nssv16214552; dbVar:nssv18786491; morbid:NPHP1
P_loss_phen : Joubert syndrome 4, 609583 (3) AR; Nephronophthisis 1, juvenile, 256100 (3) AR; Senior-Loken syndrome-1, 266900 (3) AR
P_loss_hpo : .
41P_snvindel_nb : 41
P_snvindel_phen : Inborn_genetic_diseases; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_renal_defect; NPHP1-Related_Disorders; NPHP1-related_condition; Nephronophthisis; Nephronophthisis_1; Senior-Loken_syndrome_1
dbVar; gnomAD-SV_v3_DEL_chr2_8881e883B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883
B_loss_coord : chr2:106014408-123234450; chr2:110094922-110231423; chr2:110095276-110225397
B_loss_AFmax : 0.2151
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 84420
splitAnnotation_mode : split
MTLNGene_name : MTLN;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 205251
txStart-txEndLocation : txStart-txEnd
CytoBand : q13
Location2 : 5'UTR-3'UTR
Tx : NM_001384134
Tx_version : 1
Tx_start : 110211528
Tx_end : 110212547
Exon_count : 2
Overlapped_tx_length : 1019
Overlapped_CDS_length : 171
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 110211528
Intersect_end : 110212547
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr2_8881e883B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883
B_loss_coord : chr2:106014408-123234450; chr2:110094922-110231423; chr2:110095276-110225397
B_loss_AFmax : 0.2151
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : -0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5G (ZNF595, +0.10): The patient phenotype is nonspecific, but is consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.5).
DELSV_type : DEL
SV_length : 330
Gene_count : 1
fullAnnotation_mode : full
ZNF595Gene_name : ZNF595;
LOEUF_bin : 6
GnomAD_pLI : 3.0550e-01
ExAC_pLI : 1.7753e-05
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -2.08573739588537
ExAC_misZ : -0.684191486481177
Closest_left : .
Closest_right : LOC124900641
.Location : .
CytoBand : p16.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6286Exomiser_gene_pheno_score : 0.6286
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18330206; dbVar:nssv16254942; dbVar:nssv15140532; dbVar:nssv15129769; dbVar:nssv15124924; dbVar:nssv15139152; dbVar:nssv15136460; dbVar:nssv15138769; dbVar:nssv15136794; dbVar:nssv15139111; dbVar:nssv15145893; dbVar:nssv15145934; dbVar:nssv15134095; dbVar:nssv15147322; dbVar:nssv8639431; dbVar:nssv15164280; dbVar:nssv16208663; dbVar:nssv15123439; dbVar:nssv15135098; dbVar:nssv15146364; dbVar:nssv15121022; dbVar:nssv15119845; dbVar:nssv16207942; dbVar:nssv15151269; dbVar:nssv15149902; dbVar:nssv15146789; dbVar:nssv17976873; dbVar:nssv15151109; dbVar:nssv17957198; dbVar:nssv15137532; dbVar:nssv15148266; dbVar:nssv17956854; dbVar:nssv17976719; dbVar:nssv16254943; dbVar:nssv16207937; dbVar:nssv15152168; dbVar:nssv15141218; dbVar:nssv16254952; dbVar:nssv15150277; dbVar:nssv17976824; dbVar:nssv16254953; dbVar:nssv15139308; dbVar:nssv16207941; dbVar:nssv15138820; nssv16207940; dbVar:nssv16207939; dbVar:nssv18330137; dbVar:nssv18330792; dbVar:nssv17649921; dbVar:nssv15150501; dbVar:nssv15146961
po_P_loss_coord : 4:10002-12783377; 4:10002-1335080; 4:29215-1923781; 4:33575-2354789; 4:33575-4533054; 4:36425-1956092; 4:36425-3265531; 4:36425-3881330; 4:36425-3974044; 4:36425-7359817; 4:36425-9369341; 4:37336-15869056; 4:37336-3775112; 4:37336-9369258; 4:44020-19794559; 4:49557-2008670; 4:49557-24278859; 4:49557-8870748; 4:51520-1405362; 4:56879-14499760; 4:56879-2213205; 4:56879-3870653; 4:68454-10311174; 4:68454-10334408; 4:68454-13768483; 4:68454-14612453; 4:68454-1510626; 4:68454-15971760; 4:68454-1673416; 4:68454-1997458; 4:68454-20385608; 4:68454-20585544; 4:68454-20962952; 4:68454-2135484; 4:68454-2784857; 4:68454-3890257; 4:68454-4043258; 4:68454-5044599; 4:68454-5318046; 4:68454-5577740; 4:68454-5829794; 4:68454-6055026; 4:68454-6982780; 4:68454-8730129; 4:68454-9766517; 4:68455-12368359; 4:68455-2435563; 4:68707-18911372; 4:71661-15301115; 4:71661-29005123
po_P_loss_percent : 0.00; 0.02; 0.02; 0.01; 0.01; 0.02; 0.01; 0.01; 0.01; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.02; 0.00; 0.00; 0.02; 0.00; 0.02; 0.01; 0.00; 0.00; 0.00; 0.00; 0.02; 0.00; 0.02; 0.02; 0.00; 0.00; 0.00; 0.02; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr4:68022-136350; chr4:69108-230411
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:69108-230411 dbVar
po_B_loss_someG_coord : chr4:68022-136350 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 330
splitAnnotation_mode : split
ZNF595Gene_name : ZNF595;
LOEUF_bin : 6
GnomAD_pLI : 3.0550e-01
ExAC_pLI : 1.7753e-05
HI : .
TS : .
DDD_HI_percent : 93
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -2.08573739588537
ExAC_misZ : -0.684191486481177
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 152687
intron2-intron2Location : intron2-intron2
CytoBand : p16.3
Location2 : CDS
Tx : NM_001286052
Tx_version : 2
Tx_start : 53320
Tx_end : 88208
Exon_count : 3
Overlapped_tx_length : 331
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11995
Nearest_SS_type : 5'
Intersect_start : 71551
Intersect_end : 71882
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6286Exomiser_gene_pheno_score : 0.6286
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; small presphenoid bone
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr4:68022-136350; chr4:69108-230411
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
YIF1AGene_name : YIF1A;
LOEUF_bin : 8
GnomAD_pLI : 6.1818e-10
ExAC_pLI : 2.0823e-09
HI : .
TS : .
DDD_HI_percent : 28.74
ExAC_cnvZ : 1.13994907670468
ExAC_delZ : 0.682600618126517
ExAC_dupZ : 0.996104151362221
ExAC_synZ : 0.265437672086105
ExAC_misZ : -0.933513120968195
Closest_left : CNIH2
Closest_right : TMEM151A
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
TMEM151A (morbid/RE=GH_promoter_enhancer); RE_gene : TMEM151A (morbid/RE=GH_promoter_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv17973171; nssv17973369; dbVar:nssv15148225
po_P_loss_coord : 11:11814023-118502397; 11:64755312-66516223; 11:65741432-67705669
po_P_loss_percent : 0.00; 0.06; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:66286960-66287135; 11:66287142-66287333
Repeat_type_left : L2c; MIRb
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.605
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
YIF1AGene_name : YIF1A;
LOEUF_bin : 8
GnomAD_pLI : 6.1818e-10
ExAC_pLI : 2.0823e-09
HI : .
TS : .
DDD_HI_percent : 28.74
ACMG : .
ExAC_cnvZ : 1.13994907670468
ExAC_delZ : 0.682600618126517
ExAC_dupZ : 0.996104151362221
ExAC_synZ : 0.265437672086105
ExAC_misZ : -0.933513120968195
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10897
exon2-intron4Location : exon2-intron4
CytoBand : q13.2
Location2 : CDS
Tx : NM_001300861
Tx_version : 2
Tx_start : 66284579
Tx_end : 66289143
Exon_count : 7
Overlapped_tx_length : 1001
Overlapped_CDS_length : 192
Overlapped_CDS_percent : 26
Frameshift : no
Dist_nearest_SS : 8
Nearest_SS_type : 5'
Intersect_start : 66287087
Intersect_end : 66288088
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 122
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107984412
Closest_right : LOC124902794
.Location : .
CytoBand : q25
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207657; dbVar:nssv15147420; dbVar:nssv15132614; dbVar:nssv15153878; dbVar:nssv15139751; dbVar:nssv15134309; dbVar:nssv15145899; dbVar:nssv15142376; dbVar:nssv18830814; dbVar:nssv15755693; dbVar:nssv15139559; dbVar:nssv16208319; dbVar:nssv15142485; dbVar:nssv15142158; dbVar:nssv15139488; dbVar:nssv15139776; dbVar:nssv15148132; dbVar:nssv15145880; dbVar:nssv15137036; dbVar:nssv15126979; dbVar:nssv18330237; dbVar:nssv15132753; dbVar:nssv15147462; dbVar:nssv15150835; dbVar:nssv15132600; dbVar:nssv15133149; dbVar:nssv15137682; dbVar:nssv16207649; dbVar:nssv16208320; dbVar:nssv15145911; dbVar:nssv15135035; dbVar:nssv15171840; dbVar:nssv15606041; dbVar:nssv16253911; dbVar:nssv15134800; dbVar:nssv15145891; dbVar:nssv15129449; dbVar:nssv15148876; dbVar:nssv15134314; dbVar:nssv15124336; dbVar:nssv15142150; dbVar:nssv18326401; dbVar:nssv15145868; dbVar:nssv15132067; dbVar:nssv16254846; dbVar:nssv15153875; dbVar:nssv15139665; dbVar:nssv17976508; dbVar:nssv15137615; dbVar:nssv15155376; dbVar:nssv15133176; dbVar:nssv15142089; dbVar:nssv15134315; dbVar:nssv16254848; dbVar:nssv15148965; dbVar:nssv18330747; dbVar:nssv15776136; dbVar:nssv15146733
po_P_loss_coord : 11:114562592-131360571; 11:119424298-135075271; 11:119433910-134998513; 11:119667955-135068576; 11:119936765-134998513; 11:120507266-134576266; 11:120515760-135075271; 11:120656313-135068576; 11:120660320-134387659; 11:120706276-135064169; 11:120744666-134998513; 11:120871832-135068576; 11:121265895-135068576; 11:121545553-135068576; 11:121611477-135068576; 11:121630364-134998454; 11:121689053-135075271; 11:121780460-135075271; 11:121806548-135068576; 11:121808921-135076622; 11:123105117-135068576; 11:123799939-134998526; 11:123963075-135075271; 11:123989579-134998513; 11:124155724-134998513; 11:124205226-134998526; 11:124315026-134818116; 11:124357045-135074583; 11:124362713-135068576; 11:124940060-135075271; 11:125241473-134998513; 11:125496559-135068576; 11:125576206-135034169; 11:125915593-135068576; 11:126046359-134998513; 11:126046359-135075271; 11:126067489-135064169; 11:126199590-135075271; 11:126433741-135040246; 11:126761664-134998513; 11:126893049-135068576; 11:127204341-135076622; 11:127564483-135075271; 11:127604661-134998454; 11:127732221-135068576; 11:127820691-132534223; 11:127915965-135068576; 11:128764791-134387847; 11:128867947-133086998; 11:129202399-135068576; 11:129700537-134998513; 11:129851915-135068576; 11:130060293-135040246; 11:130258429-135068576; 11:130706505-135075271; 11:131065741-135068576; 11:131099378-135068576; 11:131212029-135075271
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr11:131266738-131266810 HPRC:pbsv.DEL.9074
po_B_loss_someG_coord : 11:131266738-131266810 CMRI:1_pbsv.DEL.1748_duplicate8
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:131264979-131266870
Repeat_type_left : (AT)n
Gap_left : .
GC_content_left : 0.210
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:131264979-131266870; 11:131266877-131267242
Repeat_type_right : (AT)n; L1PB1
Gap_right : .
GC_content_right : 0.240
3ACMG_class : 3
AnnotSV_ranking_score : 0.6
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2I-2 (IFT140, +0.45): NA
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5H (IFT140, +0.15): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7).
DUPSV_type : DUP
SV_length : 5000
Gene_count : 1
fullAnnotation_mode : full
IFT140Gene_name : IFT140;
LOEUF_bin : 4
GnomAD_pLI : 9.9140e-24
ExAC_pLI : 9.1377e-18
HI : .
TS : .
DDD_HI_percent : 69.24
ExAC_cnvZ : -0.844654865976432
ExAC_delZ : -1.52736818830718
ExAC_dupZ : -0.448946429663129
ExAC_synZ : -0.922111894578121
ExAC_misZ : -1.23259677674915
Closest_left : TMEM204
Closest_right : LOC105371046
.Location : .
CytoBand : p13.3
614620; OMIM_ID : 614620;
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8009Exomiser_gene_pheno_score : 0.8009
BPhenoGenius_specificity : B
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15147067; dbVar:nssv15148669; dbVar:nssv15147068; dbVar:nssv17649874; dbVar:nssv15152396; dbVar:nssv15150758; dbVar:nssv15149904; dbVar:nssv15154767; dbVar:nssv16254459; dbVar:nssv15149503; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv15147425; dbVar:nssv15147959; dbVar:nssv15147069; dbVar:nssv15148094; dbVar:nssv15147790; dbVar:nssv8639650; dbVar:nssv15606077; dbVar:nssv18326373; dbVar:nssv15146792; dbVar:nssv15147071; dbVar:nssv15145754; dbVar:nssv15155466
po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:23142-11296695; 16:28802-9075591; 16:29942-2560460; 16:34486-5201012; 16:35881-11115431; 16:35881-19795599; 16:35881-22430686; 16:35881-3166550; 16:35881-5199456; 16:35881-9789272; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:43733-13326806; 16:46767-11525516; 16:46767-3214623; 16:46767-4247185; 16:47134-5072973; 16:52840-28316355; 16:59981-4266796; 16:61046-6577458; 16:666663-15743104; 16:1221652-2233773; 16:1278822-1919148; 16:1455184-4365345
po_P_gain_percent : 0.01; 0.01; 0.04; 0.06; 0.20; 0.10; 0.05; 0.03; 0.02; 0.16; 0.10; 0.05; 0.01; 0.01; 0.01; 0.04; 0.04; 0.16; 0.12; 0.10; 0.02; 0.12; 0.08; 0.03; 0.49; 0.78; 0.17
1P_snvindel_nb : 1
P_snvindel_phen : Saldino-Mainzer_syndrome
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.595
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 16:1569950-1570766
Repeat_type_right : L1MC3
Gap_right : .
GC_content_right : 0.545
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 5000
splitAnnotation_mode : split
IFT140Gene_name : IFT140;
LOEUF_bin : 4
GnomAD_pLI : 9.9140e-24
ExAC_pLI : 9.1377e-18
HI : 30
TS : .
DDD_HI_percent : 69.24
ACMG : .
ExAC_cnvZ : -0.844654865976432
ExAC_delZ : -1.52736818830718
ExAC_dupZ : -0.448946429663129
ExAC_synZ : -0.922111894578121
ExAC_misZ : -1.23259677674915
GenCC_disease : IFT140-related recessive ciliopathy; Jeune syndrome; Leber congenital amaurosis; autosomal dominant polycystic kidney disease; retinitis pigmentosa; retinitis pigmentosa 80; short-rib thoracic dysplasia 9 with or without polydactyly
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 154653; 22503633; 22503633[PMID]; 22503633[PMID]_23418020[PMID]_24009529[PMID]; 23418020; 24009529; 26216056; 26216056[PMID]; 26968735; 30479745; 31034313
NCBI_gene_ID : 9742
intron6-intron8Location : intron6-intron8
CytoBand : p13.3
Location2 : CDS
Tx : XM_011522767
Tx_version : 2
Tx_start : 1510426
Tx_end : 1587185
Exon_count : 23
Overlapped_tx_length : 5001
Overlapped_CDS_length : 249
Overlapped_CDS_percent : 7
Frameshift : no
Dist_nearest_SS : 532
Nearest_SS_type : 5'
Intersect_start : 1565628
Intersect_end : 1570629
614620; OMIM_ID : 614620;
OMIM_phenotype : Retinitis pigmentosa 80, 617781 (3) AR;
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8009Exomiser_gene_pheno_score : 0.8009
Human_pheno_evidence : Brachydactyly; Craniosynostosis; Short toe; Short-rib thoracic dysplasia 9 with or without polydactyly
Mouse_pheno_evidence : Brachydactyly; polydactyly
Fish_pheno_evidence : .
BPhenoGenius_specificity : B
PhenoGenius_phenotype : Craniosynostosis, Brachydactyly
PhenoGenius_score : 0.75
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Saldino-Mainzer_syndrome
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (KAZN, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 240
Gene_count : 1
fullAnnotation_mode : full
KAZNGene_name : KAZN;
LOEUF_bin : 1
GnomAD_pLI : 5.9671e-01
ExAC_pLI : 1.4459e-01
HI : .
TS : .
DDD_HI_percent : 15.65
ExAC_cnvZ : -0.222130110416872
ExAC_delZ : 0.596399052261409
ExAC_dupZ : -0.567361044244512
ExAC_synZ : 0.298062600105162
ExAC_misZ : 2.93939175214053
Closest_left : PRDM2
Closest_right : LOC107985467
.Location : .
CytoBand : p36.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15148982; dbVar:nssv15128051; dbVar:nssv17976696; dbVar:nssv15147542; dbVar:nssv15133500
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:6554886-16056011; 1:8930032-16191550; 1:10115498-16283149; 1:11021752-15236671; 1:13619980-18466172
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DUP_chr1_9ad47b17B_gain_source : gnomAD-SV_v3_DUP_chr1_9ad47b17
B_gain_coord : chr1:14110160-14112070
B_gain_AFmax : 0.3453
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr1:14110160-14112070 gnomAD-SV_v3_DUP_chr1_9ad47b17
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:14110272-14110425
Repeat_type_right : ORSL-2a
Gap_right : .
GC_content_right : 0.405
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 240
splitAnnotation_mode : split
KAZNGene_name : KAZN;
LOEUF_bin : 1
GnomAD_pLI : 5.9671e-01
ExAC_pLI : 1.4459e-01
HI : .
TS : .
DDD_HI_percent : 15.65
ACMG : .
ExAC_cnvZ : -0.222130110416872
ExAC_delZ : 0.596399052261409
ExAC_dupZ : -0.567361044244512
ExAC_synZ : 0.298062600105162
ExAC_misZ : 2.93939175214053
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23254
intron1-intron1Location : intron1-intron1
CytoBand : p36.21
Location2 : CDS
Tx : XM_017000769
Tx_version : 3
Tx_start : 13892823
Tx_end : 15063854
Exon_count : 10
Overlapped_tx_length : 241
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 70034
Nearest_SS_type : 3'
Intersect_start : 14110159
Intersect_end : 14110400
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral content
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DUP_chr1_9ad47b17B_gain_source : gnomAD-SV_v3_DUP_chr1_9ad47b17
B_gain_coord : chr1:14110160-14112070
B_gain_AFmax : 0.3453
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (SECTM1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 1429
Gene_count : 1
fullAnnotation_mode : full
SECTM1Gene_name : SECTM1;
LOEUF_bin : 5
GnomAD_pLI : 5.7603e-02
ExAC_pLI : 1.7240e-01
HI : .
TS : .
DDD_HI_percent : 99.6
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.275412633643658
ExAC_misZ : 0.10738688076857
Closest_left : CD7
Closest_right : TEX19
.Location : .
CytoBand : q25.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
CSNK1D (morbid/RE=GH_promoter_enhancer); RE_gene : CSNK1D (morbid/RE=GH_promoter_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15149626; dbVar:nssv15776727; dbVar:nssv15153193; dbVar:nssv15152233; dbVar:nssv15147088; dbVar:nssv15146769; dbVar:nssv17976673; dbVar:nssv15142500; dbVar:nssv15132539; dbVar:nssv15155559; dbVar:nssv15132085; dbVar:nssv15132209; dbVar:nssv15775999; dbVar:nssv15135885
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:44503317-83137846; 17:64782603-83084062; 17:65693554-83084062; 17:69006275-83084062; 17:69209080-83086677; 17:69916436-83102552; 17:75485429-83085323; 17:75955621-83084062; 17:78092237-83086677; 17:78556530-83084062; 17:78901960-83086677; 17:78918651-83021095; 17:80635113-83084062; 17:81008197-83102584
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02; 0.03; 0.03; 0.03; 0.03; 0.06; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr17:81949112-82836454; chr17:82176281-82412415; chr17:82276127-82416065; chr17:82328477-82387351; chr17:82329124-82341124; chr17:82331624-82366124
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr17:82176281-82412415 dbVar; chr17:82328477-82387351 dbVar; chr17:82331624-82366124 dbVar;
po_B_gain_someG_coord : chr17:81949112-82836454 dbVar; chr17:82276127-82416065 dbVar; chr17:82329124-82341124 dbVar; chr17:82333565-82333659 gnomAD-SV_v3_DUP_chr17_bfdbe9b5
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.730
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.630
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 1429
splitAnnotation_mode : split
SECTM1Gene_name : SECTM1;
LOEUF_bin : 5
GnomAD_pLI : 5.7603e-02
ExAC_pLI : 1.7240e-01
HI : .
TS : .
DDD_HI_percent : 99.6
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.275412633643658
ExAC_misZ : 0.10738688076857
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6398
txStart-intron1Location : txStart-intron1
CytoBand : q25.3
Location2 : 5'UTR
Tx : XM_005256392
Tx_version : 4
Tx_start : 82321023
Tx_end : 82333959
Exon_count : 5
Overlapped_tx_length : 389
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 251
Nearest_SS_type : 5'
Intersect_start : 82333570
Intersect_end : 82333959
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr17:81949112-82836454; chr17:82176281-82412415; chr17:82276127-82416065; chr17:82328477-82387351; chr17:82329124-82341124; chr17:82331624-82366124
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (ZDHHC11B, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 200
Gene_count : 1
fullAnnotation_mode : full
ZDHHC11BGene_name : ZDHHC11B;
LOEUF_bin : 8
GnomAD_pLI : 3.6787e-13
ExAC_pLI : 4.3228e-02
HI : .
TS : .
DDD_HI_percent : 98.37
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.535222227518795
ExAC_misZ : -0.0274451648003615
Closest_left : LOC101929898
Closest_right : ZDHHC11
.Location : .
CytoBand : p15.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15125831; dbVar:nssv15146713; dbVar:nssv15139036; dbVar:nssv15136993; dbVar:nssv15145871; dbVar:nssv15147378; dbVar:nssv15147960; dbVar:nssv15146962; dbVar:nssv15147414; dbVar:nssv15164765; dbVar:nssv15164764; dbVar:nssv15149091; dbVar:nssv15147291; dbVar:nssv15146993; dbVar:nssv15146992; dbVar:nssv15150844; dbVar:nssv17976838; dbVar:nssv15153658; dbVar:nssv15151111; nssv15151221
po_P_gain_coord : 5:13649-181478028; 5:22150-10308736; 5:22150-15851376; 5:22150-1659135; 5:22150-2323943; 5:22150-23607053; 5:22150-28075106; 5:22150-33418188; 5:22150-34041150; 5:22150-74412725; 5:25330-181266343; 5:25330-18697919; 5:25330-19661519; 5:49979-46114984; 5:54840-35680845; 5:54840-45649861; 5:113462-20240283; 5:113462-29310413; 5:113462-35739302; 5:113463-181292788
po_P_gain_percent : 0.00; 0.00; 0.00; 0.01; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; DDD:16279; DDD:16284; DDD:16285; dbVar[...]B_gain_source : 1000g; DDD:16279; DDD:16284; DDD:16285; dbVar; dgv1061e214; dgv131e203
B_gain_coord : chr5:432036-919240; 5:653467-874903; chr5:685741-850534; 5:686489-840158; 5:708488-865362; chr5:714235-736385; chr5:714873-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:717523-748329
B_gain_AFmax : 0.3222
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : 5:653467-874903 dgv131e203; 5:686489-840158 DDD:16279; chr5:714235-736385 dbVar; 5:714874-733823 1000g; 5:714874-733823 1000g; 5:717523-748329 DDD:16285
po_B_gain_someG_coord : chr5:432036-919240 dbVar; chr5:685741-850534 dbVar; 5:708488-865362 DDD:16284; chr5:714873-733823 dbVar; 5:714874-733823 1000g; 5:714874-733823 dgv1061e214
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 5:686008-731279
Repeat_coord_left : 5:723274-723489
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 5:686008-731279
Repeat_coord_right : 5:723274-723489
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.470
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 200
splitAnnotation_mode : split
ZDHHC11BGene_name : ZDHHC11B;
LOEUF_bin : 8
GnomAD_pLI : 3.6787e-13
ExAC_pLI : 4.3228e-02
HI : .
TS : .
DDD_HI_percent : 98.37
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.535222227518795
ExAC_misZ : -0.0274451648003615
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 653082
intron13-intron13Location : intron13-intron13
CytoBand : p15.33
Location2 : 3'UTR
Tx : XM_017010112
Tx_version : 2
Tx_start : 710354
Tx_end : 769937
Exon_count : 15
Overlapped_tx_length : 201
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6328
Nearest_SS_type : 3'
Intersect_start : 723193
Intersect_end : 723394
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; DDD:16279; DDD:16284; DDD:16285; dbVar[...]B_gain_source : 1000g; DDD:16279; DDD:16284; DDD:16285; dbVar; dgv1061e214; dgv131e203
B_gain_coord : chr5:432036-919240; 5:653467-874903; chr5:685741-850534; 5:686489-840158; 5:708488-865362; chr5:714235-736385; chr5:714873-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:717523-748329
B_gain_AFmax : 0.3222
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (PLD5, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 200
Gene_count : 1
fullAnnotation_mode : full
PLD5Gene_name : PLD5;
LOEUF_bin : 2
GnomAD_pLI : 3.0678e-02
ExAC_pLI : 1.2420e-01
HI : .
TS : .
DDD_HI_percent : 32.58
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.500445291205794
ExAC_misZ : 2.00529193952475
Closest_left : LOC105373235
Closest_right : LOC105373234
.Location : .
CytoBand : q43
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv15156411; dbVar:nssv15147341; dbVar:nssv15149590; dbVar:nssv15170725; dbVar:nssv15149119; dbVar:nssv15774642; dbVar:nssv15776729; dbVar:nssv15145719; dbVar:nssv15156414; dbVar:nssv15145830; dbVar:nssv15136049; dbVar:nssv15142850
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:228342273-248887399; 1:229022910-248918469; 1:231535125-248918801; 1:232096590-248924793; 1:233915119-248918860; 1:235419266-248930485; 1:238505994-248930485; 1:240244445-248891309; 1:240794756-243535565; 1:241625116-245453782; 1:241967140-245542967; 1:242161097-248930485
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.200
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:242393777-242394066
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.565
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 200
splitAnnotation_mode : split
PLD5Gene_name : PLD5;
LOEUF_bin : 2
GnomAD_pLI : 3.0678e-02
ExAC_pLI : 1.2420e-01
HI : .
TS : .
DDD_HI_percent : 32.58
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.500445291205794
ExAC_misZ : 2.00529193952475
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 200150
intron1-intron1Location : intron1-intron1
CytoBand : q43
Location2 : CDS
Tx : NM_001195811
Tx_version : 2
Tx_start : 242082985
Tx_end : 242449468
Exon_count : 10
Overlapped_tx_length : 201
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 45431
Nearest_SS_type : 3'
Intersect_start : 242393673
Intersect_end : 242393874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5H (RE:MOSMO, +0.15): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7).
DUPSV_type : DUP
SV_length : 2000
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124903801
Closest_right : UQCRC2
.Location : .
CytoBand : p12.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
MOSMO (EX=0.7661/RE=GH_enhancer); UQCRC2 (mor[...]RE_gene : MOSMO (EX=0.7661/RE=GH_enhancer); UQCRC2 (morbid/RE=EA_enhancer+GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15149904; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv8639650; dbVar:nssv16254749; dbVar:nssv18330738; dbVar:nssv15147962; dbVar:nssv16216874; dbVar:nssv15145716; dbVar:nssv15152163; dbVar:nssv15141610; dbVar:nssv15137711; dbVar:nssv15152186; dbVar:nssv15132158; dbVar:nssv16207267; dbVar:nssv18330281; dbVar:nssv15132161; dbVar:nssv15145446; dbVar:nssv15145205
po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:35881-22430686; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:52840-28316355; 16:2909279-30179272; 16:4330767-30434029; 16:4644893-29170820; 16:5755001-34995630; 16:14954895-28306843; 16:18144419-30165919; 16:19412794-30130899; 16:21350623-29202837; 16:21368308-29340505; 16:21463740-29249579; 16:21565482-29340505; 16:21565483-30165919; 16:21602184-29314373; 16:21928120-22428075; 16:21928120-22435412
po_P_gain_percent : 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02; 0.03; 0.03; 0.03; 0.03; 0.02; 0.03; 0.40; 0.39
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr16:21804678-22564679; chr16:21930678-21966679; chr16:21934532-22029031
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr16:21930678-21966679 dbVar;
po_B_gain_someG_coord : chr16:21804678-22564679 dbVar; chr16:21934532-22029031 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 16:21932321-21937123; 16:21935359-21937119
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 16:21937123-21938271
Repeat_type_right : L1M4c
Gap_right : .
GC_content_right : 0.330
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 300
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124903857
Closest_right : ESPNP
.Location : .
CytoBand : p36.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15133500
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:13619980-18466172
po_P_gain_percent : 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:660; DDD:663; DDD:698; dbVar; dgv1e203B_gain_source : DDD:660; DDD:663; DDD:698; dbVar; dgv1e203
B_gain_coord : 1:16487427-16935752; 1:16509860-16778024; 1:16518239-16924566; chr1:16522734-16725477; chr1:16524649-16798295; chr1:16525189-16761311; chr1:16527644-16725477; chr1:16527644-16761311; chr1:16681505-16687005; chr1:16682751-16725477; chr1:16682751-16798295; 1:16686147-16705084
B_gain_AFmax : 0.1172
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : 1:16509860-16778024 DDD:660; chr1:16522734-16725477 dbVar; chr1:16524649-16798295 dbVar; chr1:16527644-16725477 dbVar; chr1:16681505-16687005 dbVar; chr1:16682751-16725477 dbVar; 1:16686147-16705084 DDD:698; chr1:16686510-16761311 dbVar
po_B_gain_someG_coord : 1:16487427-16935752 dgv1e203; 1:16518239-16924566 DDD:663; chr1:16524649-16686510 dbVar; chr1:16525189-16761311 dbVar; chr1:16527644-16761311 dbVar; chr1:16682751-16686510 dbVar; chr1:16682751-16798295 dbVar; chr1:16686510-16725477 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 1:16669564-16687097; 1:16669564-16687097; 1:16680659-16688784; 1:16680659-16688784; 1:16680842-16715804; 1:16681767-16687097
Repeat_coord_left : 1:16686413-16686450
Repeat_type_left : (TAT)n
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 1:16669564-16687097; 1:16669564-16687097; 1:16680659-16688784; 1:16680659-16688784; 1:16680842-16715804; 1:16681767-16687097
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.545
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 50
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904031
Closest_right : LOC124904033
.Location : .
CytoBand : q22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15132970
po_P_loss_coord : 17:36382249-83103577; 17:49974534-56807609
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:2_pbsv.DEL.1188_duplicate10; HPRC:pbsv.D[...]B_loss_source : CMRI:2_pbsv.DEL.1188_duplicate10; HPRC:pbsv.DEL.5067; dbVar
B_loss_coord : chr17:54623551-54632336; chr17:54624453-54630794; 17:54627815-54627865; chr17:54627815-54627865; chr17:54627815-54627865
B_loss_AFmax : 0.5219
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr17:54624453-54630794 dbVar; chr17:54627815-54627865 HPRC:pbsv.DEL.5067; 17:54627816-54627865 1000g;
po_B_loss_someG_coord : chr17:54623551-54632336 dbVar; 17:54627815-54627865 CMRI:2_pbsv.DEL.1188_duplicate10; chr17:54627815-54627865 dbVar; chr17:54627816-54627865 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.305
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 88
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105369183
Closest_right : LINC00273
.Location : .
CytoBand : p11.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141243
po_P_loss_coord : 16:28814842-35140636
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; dbVar; dgv50e203B_loss_source : 1000g; dbVar; dgv50e203
B_loss_coord : 16:31738133-34209701; chr16:34017304-34065875; 16:34017305-34065875
B_loss_AFmax : 0.0500
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr16:34017304-34065875 dbVar;
po_B_loss_someG_coord : 16:31738133-34209701 dgv50e203; 16:34017305-34065875 1000g
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 16:33748621-34062003; 16:33829437-34062003; 16:34015080-34050158; 16:34015080-34062003; 16:34018673-34062003; 16:34018673-34062003; 16:34018700-34050115; 16:34022599-34050115; 16:34023255-34050152; 16:34023970-34050115; 16:34024870-34050110; 16:34026294-34050111; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34062003; 16:34027214-34050116; 16:34027242-34061996; 16:34027242-34062003; 16:34027251-34062003; 16:34029379-34050115; 16:34032174-34050152; 16:34033569-34050115; 16:34033653-34050114; 16:34033653-34062003; 16:34033653-34062003; 16:34037759-34062003; 16:34038205-34050114; 16:34038576-34050146; 16:34041879-34050132; 16:34042824-34050132; 16:34045158-34050114; 16:34045158-34050114; 16:34045212-34050114; 16:34045394-34050116; 16:34045394-34050116; 16:34045394-34054868; 16:34045610-34062003; 16:34045712-34050114; 16:34046467-34062003; 16:34046467-34062003; 16:34046467-34062003; 16:34047172-34050114; 16:34047172-34050114; 16:34047172-34050114; 16:34047802-34050111; 16:34049239-34062003
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.655
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 16:33748621-34062003; 16:33829437-34062003; 16:34015080-34050158; 16:34015080-34062003; 16:34018673-34062003; 16:34018673-34062003; 16:34023255-34050152; 16:34026294-34062003; 16:34027242-34061996; 16:34027242-34062003; 16:34027251-34062003; 16:34032174-34050152; 16:34033653-34062003; 16:34033653-34062003; 16:34037759-34062003; 16:34038576-34050146; 16:34045394-34054868; 16:34045610-34062003; 16:34046467-34062003; 16:34046467-34062003; 16:34046467-34062003; 16:34049239-34062003
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.655
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 200
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124903463
Closest_right : GJD2
.Location : .
CytoBand : q14
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208403; dbVar:nssv15147319; dbVar:nssv15127755; dbVar:nssv15148236; dbVar:nssv15127602; dbVar:nssv16208407; dbVar:nssv15146365; dbVar:nssv15146268; dbVar:nssv17976656; dbVar:nssv16208948; dbVar:nssv18788041; dbVar:nssv15146269
po_P_loss_coord : 15:23319715-36569278; 15:23319715-38089582; 15:23377380-101981189; 15:25033870-37204304; 15:28917418-101981189; 15:31383250-35397757; 15:32326137-39394068; 15:32635804-40233825; 15:33517450-39735062; 15:33905288-38364053; 15:34233872-34794818; 15:34588016-39280404
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.04; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr15_6b875bcaB_loss_source : dbVar; gnomAD-SV_v3_DEL_chr15_6b875bca
B_loss_coord : chr15:32070448-77618522; chr15:34704072-34739469
B_loss_AFmax : 0.6592
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr15:34704072-34739469 dbVar
po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 15:34735963-34736395
Repeat_type_right : MLT1O
Gap_right : .
GC_content_right : 0.495
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 57
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLITRK6
Closest_right : LOC124903227
.Location : .
CytoBand : q31.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161772; dbVar:nssv15161334; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv15161906; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647; dbVar:nssv15172817; dbVar:nssv17957149; dbVar:nssv15161314; dbVar:nssv15161128; dbVar:nssv15161434; dbVar:nssv17969606; dbVar:nssv15161875; dbVar:nssv15161542; dbVar:nssv15136635; dbVar:nssv15120288; dbVar:nssv17969608; dbVar:nssv15149514; dbVar:nssv15140176; dbVar:nssv15134931; dbVar:nssv15158016
po_P_loss_coord : 13:18445863-114327173; 13:40942299-114340331; 13:41883706-91144444; 13:44967524-92738168; 13:46968081-87381985; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303; 13:56484301-94032361; 13:59000627-88757773; 13:66320999-87855429; 13:71439660-87369304; 13:73885259-92829041; 13:75000525-87132576; 13:76368469-90007867; 13:77061781-92460406; 13:78304803-91283940; 13:78349127-94701844; 13:78795878-114342258; 13:79998364-108067180; 13:81276957-102212324; 13:84005265-92784013; 13:84452425-91808893
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.911_duplicate6; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.911_duplicate6; HPRC:pbsv.DEL.4436; dbVar
B_loss_coord : chr13:85927865-86186189; 13:86026500-86026557; chr13:86026500-86026557; chr13:86026500-86026557
B_loss_AFmax : 0.8566
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 13:86026500-86026557 CMRI:0_pbsv.DEL.911_duplicate6; chr13:86026500-86026557 dbVar
po_B_loss_someG_coord : chr13:85927865-86186189 dbVar; chr13:86026500-86026557 HPRC:pbsv.DEL.4436
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 13:86026142-86026503; 13:86026505-86026534
Repeat_type_left : L1PB1; (AT)n
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 13:86026142-86026503; 13:86026505-86026534
Repeat_type_right : L1PB1; (AT)n
Gap_right : .
GC_content_right : 0.255
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 66
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC101928563
Closest_right : LOC107984362
.Location : .
CytoBand : p12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15150227; dbVar:nssv15147690; dbVar:nssv15161504; dbVar:nssv15136152
po_P_loss_coord : 11:11814023-118502397; 11:27567014-41749242; 11:30593581-40584589; 11:35663579-46959820; 11:36007378-40318124
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.629_duplicate5; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.629_duplicate5; HPRC:pbsv.DEL.3363; dbVar
B_loss_coord : chr11:38927545-39202226; chr11:38988727-38989256; 11:38989189-38989255; chr11:38989189-38989255; chr11:38989189-38989256
B_loss_AFmax : 0.8028
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr11:38988727-38989256 dbVar; chr11:38989189-38989255 dbVar; chr11:38989192-38989255 dbVar; chr11:38989192-39046239 dbVar
po_B_loss_someG_coord : chr11:38927545-39202226 dbVar; 11:38989189-38989255 CMRI:0_pbsv.DEL.629_duplicate5; chr11:38989189-38989256 HPRC:pbsv.DEL.3363; chr11:38989192-38989255 gnomAD-SV_v3_DEL_chr11_5d268c44
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:38989186-38989245; 11:38989246-38989270; 11:38989272-38989500
Repeat_type_left : (TTCC)n; (T)n; AluJb
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:38989186-38989245; 11:38989246-38989270; 11:38989272-38989500
Repeat_type_right : (TTCC)n; (T)n; AluJb
Gap_right : .
GC_content_right : 0.455
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : .
Gene_count : 181
fullAnnotation_mode : full
SOX4; LOC124901483; CASC15; LOC124901274; LOC105374970; [...181genes]Gene_name : SOX4; LOC124901483; CASC15; LOC124901274; LOC105374970; NBAT1; LOC124901275; PRL; LOC105374971; HDGFL1; LINC03005; LOC105374973; LOC102724736; LOC105374974; LOC105374976; LOC102724749; LOC105374975; LOC124901276; NRSN1; LOC124900220; DCDC2; KAAG1; MRS2; GPLD1; ALDH5A1; LOC124901277; KIAA0319; TDP2; ACOT13; LOC124901279; LOC124901278; C6orf62; LINC02828; GMNN; LOC124901280; ARMH2; RIPOR2; LOC105374981; LOC102724765; CMAHP; LOC124901282; LOC107986530; LOC124901283; LOC101928663; CARMIL1; LOC124901281; SCGN; LOC124901284; SLC17A1; H2AC1; H2BC1; H2AC2P; SLC17A4; LOC124901285; SLC17A3; SLC17A2; TRIM38; LINC02980; H1-1; H3C1; H4C1; H4C2; H3C2; H2AC4; H2BC3; H3C3; H1-2; HFE-AS1; HFE; H4C3; H1-6; H2BC4; H2AC6; H1-4; H2BC5; H2BC6-AS1; H2BC6; H4C4; H3C4; H2AC7; H2BC7; H4C5; H2BC8; H2AC8; H3C6; H1-3; H4C6; H4C7; H3C7; H2BC9; LOC105374986; H3C8; H2BC10; H4C8; LOC124901287; LOC101928743; LOC124901288; BTN3A2; BTN2A2; BTN3A1; BTN2A3P; BTN3A3; BTN2A1; LOC285819; LOC107986583; BTN1A1; HCG11; HMGN4; LOC105374988; ABT1; LOC105374989; ZNF322; LOC102724851; LOC105374991; LOC105374992; LOC124901289; LOC124901290; GUSBP2; LINC00240; LARRPM; H2BC11; H2AC11; H2BC12; H4C9; H2AC12; MIR3143; LOC124901293; PRSS16; POM121L2; LOC105375107; VN1R10P; ZNF204P; ZNF391; ZNF184; LOC105375001; LOC124901292; LINC01012; LOC124901291; LOC100131289; H2BC13; H2AC13; H3C10; H2AC14; H2BC14; H4C11; H4C12; H2AC15; H2BC15; H2AC16; H1-5; H3C11; H4C13; H3C12; H2AC17; H2BC17; OR2B2; OR2B6; LOC124901506; OR2B8P; ZNF165; ZSCAN12P1; ZSCAN16-AS1; ZSCAN16; ZKSCAN8; ZKSCAN8P1; TOB2P1; ZSCAN9; ZKSCAN4; NKAPL; ZSCAN26; PGBD1; ZSCAN31; ZKSCAN3; ZSCAN12; LOC105374998; ZSCAN23; LOC124901294; LOC124901295; GPX6; GPX5; LOC107986586;
LOEUF_bin : 0
GnomAD_pLI : 9.8336e-01
ExAC_pLI : 9.4656e-01
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : 1.3519700358636
ExAC_delZ : 1.22041569714049
ExAC_dupZ : 1.32156943181946
ExAC_synZ : 2.54163041946051
ExAC_misZ : 3.92864771950973
Closest_left : LOC107986579
Closest_right : SCAND3
.Location : .
CytoBand : p22.3-p22.1
0.8416Exomiser_gene_pheno_score : 0.8416
CPhenoGenius_specificity : C
MAF (EX=0.8595/morbid/RE=mTL_miRNA); CREBBP ([...]RE_gene : MAF (EX=0.8595/morbid/RE=mTL_miRNA); CREBBP (HI=3/EX=0.8187/morbid/RE=mTL_miRNA); TFAP2A (EX=0.7962/morbid/RE=mTL_miRNA); NRAS (EX=0.7411/morbid/RE=mTL_miRNA); PLXND1 (EX=0.7246/morbid/RE=mTL_miRNA); RREB1 (EX=0.8300/RE=mTL_miRNA); MATR3 (morbid/RE=mTL_miRNA); ARID1B (HI=3/morbid/RE=mTL_miRNA); SATB1 (morbid/RE=mTL_miRNA); SAR1B (morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); RNF6 (morbid/RE=mTL_miRNA); KMT2A (HI=3/morbid/RE=mTL_miRNA); ITCH (morbid/RE=mTL_miRNA); ATP9A (morbid/RE=mTL_miRNA); TMEM218 (morbid/RE=mTL_miRNA); AMD1 (morbid/RE=mTL_miRNA); ZNF711 (morbid/RE=mTL_miRNA); GDAP2 (morbid/RE=mTL_miRNA); FLVCR1 (morbid/RE=mTL_miRNA); STX1B (morbid/RE=mTL_miRNA); KLHL15 (morbid/RE=mTL_miRNA); HNRNPDL (morbid/RE=mTL_miRNA); PTPN14 (morbid/RE=mTL_miRNA); EIF4A2 (morbid/RE=mTL_miRNA);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:21593751-21598619; 6:22519455-25226331; 6:24171755-24383292; 6:24301716-24301846; 6:24494969-24537207; 6:24502504-24515330; 6:24504850-24533712; 6:24504860-24533712; 6:24521265-24523718; 6:24527978-24528186; 6:24532100-24533712; 6:24649979-24666899; 6:24779846-24786099; 6:24839344-25042168; 6:25912754-25930691; 6:26008032-26168002; 6:26087429-26098343; 6:26103933-26104337; 6:26156329-26157115; 6:26204610-26205021; 6:27139282-27139678
P_loss_source : dbVar:nssv15120097; dbVar:nssv15143999; dbVar:nssv15147977; dbVar:nssv16215129; dbVar:nssv17171864; dbVar:nssv17957216; dbVar:nssv17973500; dbVar:nssv17974120; dbVar:nssv18787468; morbid:ALDH5A1; morbid:DCDC2; morbid:GMNN; morbid:H1-4; morbid:H4C3; morbid:H4C5; morbid:H4C9; morbid:HFE; morbid:RIPOR2; morbid:SLC17A2; morbid:SOX4; morbid:TDP2
P_loss_phen : ?Deafness, AR 104, 616515 (3) AR; Deafness, AD 21, 607017 (3) AD; ?Deafness, AR 66, 610212 (3) AR; Nephronophthisis 19, 616217 (3) AR; Sclerosing cholangitis, neonatal, 617394 (3) AR; Coffin-Siris syndrome 10, 618506 (3) AD; Hemochromatosis, type 1, 235200 (3) AR; Meier-Gorlin syndrome 6, 616835 (3) AD; Rahman syndrome, 617537 (3) AD; Spinocerebellar ataxia, AR 23, 616949 (3) AR; Succinic semialdehyde dehydrogenase deficiency, 271980 (3) AR; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758 (3) AD; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950 (3) AD; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15154409; dbVar:nssv15772668; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15124407; nssv15153178; dbVar:nssv18786303; dbVar:nssv15148873
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156975-21955733; 6:156975-23221393; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:168776-24023006; 6:820001-21699769; 6:3224311-30657190
po_P_gain_percent : 4.10; 4.10; 1.78; 7.17; 15.01; 4.11; 4.11; 10.29; 0.63; 25.52
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18329282; dbVar:nssv15151127; dbVar:nssv15773065; dbVar:nssv17955655
po_P_loss_coord : 6:12005398-22849418; 6:13693621-24225287; 6:13909895-21999975; 6:28037235-31715408
po_P_loss_percent : 11.82; 25.24; 5.35; 14.41
157P_snvindel_nb : 157
P_snvindel_phen : ALDH5A1-related_condition; Abdominal_pain; Abnormal_peripheral_nervous_system_morphology; Abnormality_of_iron_homeostasis; Abnormality_of_the_male_genitalia; Abnormality_of_the_nervous_system; Alzheimer_disease; Alzheimer_disease_type_1; Atypical_behavior; Autosomal_recessive_nonsyndromic_hearing_loss_66; Bronze_diabetes; Cardiomyopathy; Cerebellar_ataxia; Chylomicron_retention_disease; Coffin-Siris_syndrome_10; Cutaneous_photosensitivity; Cystic_fibrosis; DCDC2-related_condition; Dyslexia,_susceptibility_to,_2; Familial_porphyria_cutanea_tarda; H1-4-related_condition; HFE-related_condition; HFE-related_disorder; HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies; HIST1H4C-associated_disorder; Hemochromatosis_type_1; Hereditary_cancer-predisposing_syndrome; Hereditary_hemochromatosis; Inborn_genetic_diseases; Isolated_neonatal_sclerosing_cholangitis; Juvenile_hemochromatosis; Meier-Gorlin_syndrome; Meier-Gorlin_syndrome_6; Microvascular_complications_of_diabetes,_susceptibility_to,_7; Nephronophthisis_19; Neurodevelopmental_disorder; Pain; Peripheral_neuropathy; Porphyrinuria; Rahman_syndrome; See_cases; Spinocerebellar_ataxia,_autosomal_recessive_23; Succinate-semialdehyde_dehydrogenase_deficiency; Tessadori-van_Haaften_neurodevelopmental_syndrome_1; Transferrin_serum_level_quantitative_trait_locus_2; Variegate_porphyria; not_specified
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : 6:21597745-21597803 DDD:19968; chr6:21656406-21656458 gnomAD-SV_v3_DUP_chr6_52cbc0e6; chr6:21701630-21705101 dbVar; chr6:21804045-21804743 dbVar; chr6:21906047-21906115 dbVar; chr6:22027739-22027804 dbVar; 6:22052759-22053316 DDD:19991; chr6:22169689-22174764 dbVar; chr6:22243966-22244053 dbVar; chr6:22270909-22331689 dbVar; 6:22669581-22669581 1000g; chr6:22731945-22731973 HPRC:pbsv.INS.DUP.1848; chr6:22799840-22799914 dbVar; chr6:23129361-23129486 dbVar; chr6:23299729-23328126 dbVar; chr6:23356143-23356548 dbVar; chr6:23399055-23399106 gnomAD-SV_v3_DUP_chr6_1334b747; chr6:23399775-23399852 dbVar; chr6:23435435-23456229 dbVar; chr6:23567556-23567892 dbVar; 6:23685760-23686087 1000g...
po_B_gain_someG_coord : chr6:21537189-21570618 dbVar; 6:21637616-21637616 1000g; 6:21656407-21656457 CMRI:140_pbsv.INS.DUP.398_duplicate2; chr6:21720985-21722119 dbVar; chr6:21889729-21896194 dbVar; chr6:22027675-22027766 dbVar; chr6:22050844-22054302 dbVar; 6:22089944-22089944 1000g; 6:22227244-22227525 1000g; chr6:22266646-22267437 dbVar; chr6:22306056-22354438 dbVar; chr6:22731944-22731999 gnomAD-SV_v3_DUP_chr6_ce88f954; 6:22782421-22782744 1000g; chr6:23101391-23103935 dbVar; chr6:23224114-23224187 dbVar; chr6:23300138-23300512 dbVar; chr6:23381315-23381407 dbVar; chr6:23399056-23399105 HPRC:pbsv.INS.DUP.1890; chr6:23399777-23399892 gnomAD-SV_v3_DUP_chr6_c1328e90; chr6:23544036-23544091 dbVar; chr6:23569267-23569955 dbVar...
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr6:21627116-21627282 dbVar; chr6:21637757-21637785 HPRC:pbsv.DEL.1773; chr6:21652256-21661271 dbVar; chr6:21675564-21683456 dbVar; chr6:21700262-21700322 HPRC:pbsv.DEL.1778; chr6:21716177-21721118 dbVar; chr6:21766233-21768137 dbVar; chr6:21770830-21770852 HPRC:pbsv.DEL.1780; chr6:21813046-21813097 dbVar; chr6:21825572-21834169 dbVar; chr6:21825740-21825768 HPRC:pbsv.DEL.1788; chr6:21848225-21848684 dbVar; chr6:21850182-21850464 dbVar; 6:21851439-21851693 CMRI:0_pbsv.DEL.367_duplicate2; chr6:21851617-21851762 HPRC:pbsv.DEL.1796; 6:21851674-21851770 CMRI:2_pbsv.DEL.457_duplicate3; chr6:21852107-21852194 dbVar; chr6:21877728-21878489 dbVar; chr6:21889729-21896194 dbVar; chr6:21890041-21896531 dbVar; chr6:21946014-21947633 dbVar...
po_B_loss_someG_coord : chr6:21615494-21615514 HPRC:pbsv.DEL.1768; chr6:21631902-21631926 HPRC:pbsv.DEL.1771; chr6:21640638-21641489 dbVar; chr6:21674515-21674621 dbVar; 6:21700262-21700312 CMRI:0_pbsv.DEL.365_duplicate2; chr6:21700274-21700969 dbVar; chr6:21744256-21744377 dbVar; chr6:21770726-21770807 dbVar; chr6:21792590-21792618 HPRC:pbsv.DEL.1783; chr6:21822605-21828571 dbVar; chr6:21825585-21834264 dbVar; chr6:21826337-21826593 dbVar; chr6:21848461-21848564 dbVar; 6:21851387-21851527 CMRI:2_pbsv.DEL.456_duplicate3; chr6:21851439-21851695 HPRC:pbsv.DEL.1795; 6:21851640-21851814 CMRI:1_pbsv.DEL.365_duplicate1; chr6:21851674-21851770 HPRC:pbsv.DEL.1797; chr6:21866900-21867439 dbVar; chr6:21880150-21880426 dbVar; chr6:21889969-21901769 dbVar; chr6:21934419-21934657 dbVar...
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:21566873-21567263; 6:21567264-21567299; 6:21567302-21567579
Repeat_type_left : L1MA3; (TTTCTTTTT)n; AluSx1
Gap_left : .
GC_content_left : 0.390
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:28566946-28567405
Repeat_type_right : LTR2
Gap_right : .
GC_content_right : 0.435
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
GMNNGene_name : GMNN;
LOEUF_bin : 4
GnomAD_pLI : 1.1490e-01
ExAC_pLI : 6.0745e-01
HI : .
TS : .
DDD_HI_percent : 17.84
ACMG : .
ExAC_cnvZ : 1.03332726359373
ExAC_delZ : 0.59386664449777
ExAC_dupZ : 0.86973976697088
ExAC_synZ : -0.0713123598307586
ExAC_misZ : -0.0829965924165746
GenCC_disease : Meier-Gorlin syndrome; Meier-Gorlin syndrome 6
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 26637980; 26637980[PMID]
NCBI_gene_ID : 51053
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_001251989
Tx_version : 2
Tx_start : 24774936
Tx_end : 24786099
Exon_count : 7
Overlapped_tx_length : 11163
Overlapped_CDS_length : 630
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24774936
Intersect_end : 24786099
602842; OMIM_ID : 602842;
OMIM_phenotype : Meier-Gorlin syndrome 6, 616835 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.8416Exomiser_gene_pheno_score : 0.8416
Human_pheno_evidence : Brachydactyly; Clinodactyly of the 5th finger; Craniosynostosis; Ear-patella-short stature syndrome
Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.36
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:24779846-24786099
P_loss_source : morbid:GMNN
P_loss_phen : Meier-Gorlin syndrome 6, 616835 (3) AD
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Meier-Gorlin_syndrome; Meier-Gorlin_syndrome_6
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SOX4Gene_name : SOX4;
LOEUF_bin : 1
GnomAD_pLI : 9.2656e-01
ExAC_pLI : 3.8401e-01
HI : .
TS : .
DDD_HI_percent : 24.67
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.90188432026894
ExAC_misZ : 3.92864771950973
GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 10
GenCC_moi : AD
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 29079881; 30661722[PMID]; 30661772
NCBI_gene_ID : 6659
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_003107
Tx_version : 3
Tx_start : 21593750
Tx_end : 21598619
Exon_count : 1
Overlapped_tx_length : 4869
Overlapped_CDS_length : 1425
Overlapped_CDS_percent : 34
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 21593750
Intersect_end : 21598619
184430; OMIM_ID : 184430;
OMIM_phenotype : Coffin-Siris syndrome 10, 618506 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6210Exomiser_gene_pheno_score : 0.6210
Human_pheno_evidence : Brachydactyly; Clinodactyly of the 5th finger; Coffin-Siris syndrome 10; Craniosynostosis; Trigonocephaly
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.11
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:21593751-21598619
P_loss_source : morbid:SOX4
P_loss_phen : Coffin-Siris syndrome 10, 618506 (3) AD
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Coffin-Siris_syndrome_10
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C9Gene_name : H4C9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Tessadori-Van Haaften neurodevelopmental syndrome 4
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 8294
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003495
Tx_version : 3
Tx_start : 27139281
Tx_end : 27139678
Exon_count : 1
Overlapped_tx_length : 397
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 84
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27139281
Intersect_end : 27139678
602833; OMIM_ID : 602833;
OMIM_phenotype : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.6871Exomiser_gene_pheno_score : 0.6871
Human_pheno_evidence : Bicoronal synostosis; Brachydactyly; Craniosynostosis; Sandal gap; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:27139282-27139678
P_loss_source : morbid:H4C9
P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SLC17A2Gene_name : SLC17A2;
LOEUF_bin : 4
GnomAD_pLI : 1.4228e-06
ExAC_pLI : 4.6699e-03
HI : .
TS : .
DDD_HI_percent : 64.34
ACMG : .
ExAC_cnvZ : -0.311826261774721
ExAC_delZ : -1.28274364523141
ExAC_dupZ : 0.39315990642616
ExAC_synZ : 0.0867792620670347
ExAC_misZ : 0.715959799215346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10246
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001286123
Tx_version : 3
Tx_start : 25912753
Tx_end : 25930691
Exon_count : 12
Overlapped_tx_length : 17938
Overlapped_CDS_length : 1437
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25912753
Intersect_end : 25930691
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.5636Exomiser_gene_pheno_score : 0.5636
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; delayed bone ossification
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.06
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:25912754-25930691
P_loss_source : morbid:SLC17A2
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C5Gene_name : H4C5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Tessadori-Van Haaften neurodevelopmental syndrome 3
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : .
NCBI_gene_ID : 8367
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003545
Tx_version : 4
Tx_start : 26204609
Tx_end : 26205021
Exon_count : 1
Overlapped_tx_length : 412
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 82
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26204609
Intersect_end : 26205021
602830; OMIM_ID : 602830;
OMIM_phenotype : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5951Exomiser_gene_pheno_score : 0.5951
Human_pheno_evidence : Brachycephaly; Brachydactyly; Craniosynostosis; Long fingers; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:26204610-26205021
P_loss_source : morbid:H4C5
P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26196282-26207207
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
TDP2Gene_name : TDP2;
LOEUF_bin : 6
GnomAD_pLI : 1.1340e-08
ExAC_pLI : 1.3701e-04
HI : .
TS : .
DDD_HI_percent : 47.23
ACMG : .
ExAC_cnvZ : 0.575521096965466
ExAC_delZ : 0.684455652614797
ExAC_dupZ : 0.371069669929754
ExAC_synZ : -0.939154816982299
ExAC_misZ : 0.189303950806346
GenCC_disease : spinocerebellar ataxia, autosomal recessive 23
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 24658003; 24658003[PMID]; 26284228; 28397838
NCBI_gene_ID : 51567
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_016614
Tx_version : 3
Tx_start : 24649978
Tx_end : 24666899
Exon_count : 7
Overlapped_tx_length : 16921
Overlapped_CDS_length : 1089
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24649978
Intersect_end : 24666899
605764; OMIM_ID : 605764;
OMIM_phenotype : Spinocerebellar ataxia, AR 23, 616949 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.5364Exomiser_gene_pheno_score : 0.5364
Human_pheno_evidence : Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; Brachycephaly; Craniosynostosis
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:24649979-24666899
P_loss_source : morbid:TDP2
P_loss_phen : Spinocerebellar ataxia, AR 23, 616949 (3) AR
P_loss_hpo : .
9P_snvindel_nb : 9
P_snvindel_phen : Cerebellar_ataxia; Inborn_genetic_diseases; Spinocerebellar_ataxia,_autosomal_recessive_23
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C3Gene_name : H4C3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Tessadori-van Haaften neurodevelopmental syndrome 1
GenCC_moi : AD
GenCC_classification : Moderate
GenCC_pmid : .
NCBI_gene_ID : 8364
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003542
Tx_version : 4
Tx_start : 26103932
Tx_end : 26104337
Exon_count : 1
Overlapped_tx_length : 405
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 80
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26103932
Intersect_end : 26104337
602827; OMIM_ID : 602827;
OMIM_phenotype : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4904Exomiser_gene_pheno_score : 0.4904
Human_pheno_evidence : Brachydactyly; Oligodactyly; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:26103933-26104337
P_loss_source : morbid:H4C3
P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758 (3) AD
P_loss_hpo : .
3P_snvindel_nb : 3
P_snvindel_phen : HIST1H4C-associated_disorder; Tessadori-van_Haaften_neurodevelopmental_syndrome_1
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26103098-26124338
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
HFEGene_name : HFE;
LOEUF_bin : 6
GnomAD_pLI : 2.5587e-08
ExAC_pLI : 8.4970e-07
HI : .
TS : .
DDD_HI_percent : 74.41
ACMG : ACMG
ExAC_cnvZ : -0.307543785884328
ExAC_delZ : 0.647856723754074
ExAC_dupZ : -0.711583441632016
ExAC_synZ : 0.811058153381927
ExAC_misZ : 0.494683372825118
GenCC_disease : hemochromatosis type 1
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 20301613[PMID]; 20471131; 20800508; 27518069; 8696333
NCBI_gene_ID : 3077
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_000410
Tx_version : 4
Tx_start : 26087428
Tx_end : 26098343
Exon_count : 6
Overlapped_tx_length : 10915
Overlapped_CDS_length : 1047
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26087428
Intersect_end : 26098343
613609; OMIM_ID : 613609;
OMIM_phenotype : Hemochromatosis, type 1, 235200 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4213Exomiser_gene_pheno_score : 0.4213
Human_pheno_evidence : Brachydactyly; Stiff interphalangeal joints; Symptomatic form of HFE-related hemochromatosis
Mouse_pheno_evidence : Craniosynostosis; osteoporosis
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:26087429-26098343
P_loss_source : morbid:HFE
P_loss_phen : Hemochromatosis, type 1, 235200 (3) AR
P_loss_hpo : .
22P_snvindel_nb : 22
P_snvindel_phen : Abdominal_pain; Abnormal_peripheral_nervous_system_morphology; Abnormality_of_iron_homeostasis; Abnormality_of_the_male_genitalia; Abnormality_of_the_nervous_system; Alzheimer_disease; Alzheimer_disease_type_1; Atypical_behavior; Bronze_diabetes; Cardiomyopathy; Cutaneous_photosensitivity; Cystic_fibrosis; Familial_porphyria_cutanea_tarda; HFE-related_condition; HFE-related_disorder; Hemochromatosis_type_1; Hereditary_cancer-predisposing_syndrome; Hereditary_hemochromatosis; Inborn_genetic_diseases; Juvenile_hemochromatosis; Microvascular_complications_of_diabetes,_susceptibility_to,_7; Pain; Peripheral_neuropathy; Porphyrinuria; Transferrin_serum_level_quantitative_trait_locus_2; Variegate_porphyria; not_specified
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H1-4Gene_name : H1-4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : 0
TS : 0
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Rahman syndrome; syndromic intellectual disability
GenCC_moi : AD
GenCC_classification : Definitive; Strong
GenCC_pmid : 25081361; 28475857; 29672823; 31400068; 31447100
NCBI_gene_ID : 3008
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_005321
Tx_version : 3
Tx_start : 26156328
Tx_end : 26157115
Exon_count : 1
Overlapped_tx_length : 787
Overlapped_CDS_length : 660
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26156328
Intersect_end : 26157115
142220; OMIM_ID : 142220;
OMIM_phenotype : Rahman syndrome, 617537 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.3308Exomiser_gene_pheno_score : 0.3308
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : Craniosynostosis
PhenoGenius_score : 0.13
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:26156329-26157115
P_loss_source : morbid:H1-4
P_loss_phen : Rahman syndrome, 617537 (3) AD
P_loss_hpo : .
23P_snvindel_nb : 23
P_snvindel_phen : H1-4-related_condition; HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies; Inborn_genetic_diseases; Neurodevelopmental_disorder; Rahman_syndrome
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26151399-26158981
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26151399-26158981
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
PGBD1Gene_name : PGBD1;
LOEUF_bin : 4
GnomAD_pLI : 4.7252e-10
ExAC_pLI : 1.4674e-05
HI : .
TS : .
DDD_HI_percent : 73.73
ACMG : .
ExAC_cnvZ : 0.360283445545304
ExAC_delZ : -0.0221723076552216
ExAC_dupZ : 0.440978520722024
ExAC_synZ : -0.117785848311057
ExAC_misZ : 0.0481800856661226
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84547
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001184743
Tx_version : 2
Tx_start : 28281571
Tx_end : 28302549
Exon_count : 7
Overlapped_tx_length : 20978
Overlapped_CDS_length : 2430
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28281571
Intersect_end : 28302549
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6233Exomiser_gene_pheno_score : 0.6233
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; anophthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
RIPOR2Gene_name : RIPOR2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : autosomal recessive nonsyndromic hearing loss 104; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss
GenCC_moi : AR
GenCC_classification : Limited; Moderate; Supportive
GenCC_pmid : 188020; 24958875; 24958875[PMID]; 250984; 28383030; 30280293; 32631815
NCBI_gene_ID : 9750
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : XM_011515012
Tx_version : 2
Tx_start : 24804283
Tx_end : 25042168
Exon_count : 23
Overlapped_tx_length : 237885
Overlapped_CDS_length : 3309
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24804283
Intersect_end : 25042168
611410; OMIM_ID : 611410;
OMIM_phenotype : ?Deafness, AR 104, 616515 (3) AR;
Deafness, AD 21, 607017 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.3236Exomiser_gene_pheno_score : 0.3236
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal cochlear hair cell stereociliary bundle morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:24839344-25042168
P_loss_source : morbid:RIPOR2
P_loss_phen : ?Deafness, AR 104, 616515 (3) AR; Deafness, AD 21, 607017 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
DCDC2Gene_name : DCDC2;
LOEUF_bin : 6
GnomAD_pLI : 5.6611e-10
ExAC_pLI : 1.0485e-05
HI : .
TS : .
DDD_HI_percent : 48.98
ACMG : .
ExAC_cnvZ : 0.061979448701925
ExAC_delZ : 0.344948452443782
ExAC_dupZ : -0.142812969099758
ExAC_synZ : 0.368592258865481
ExAC_misZ : 0.945156673003412
GenCC_disease : Senior-Boichis syndrome; autosomal recessive nonsyndromic hearing loss 66; ciliopathy; hearing loss, autosomal recessive; isolated neonatal sclerosing cholangitis; nephronophthisis 19; nonsyndromic genetic hearing loss
GenCC_moi : AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 16244493; 22558177; 25130614; 25557784; 25557784[PMID]; 25601850; 25601850[PMID]; 27319779; 27319779_27469900[PMID]; 27469900; 31821705
NCBI_gene_ID : 51473
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_001195610
Tx_version : 2
Tx_start : 24171754
Tx_end : 24383292
Exon_count : 11
Overlapped_tx_length : 211538
Overlapped_CDS_length : 1431
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24171754
Intersect_end : 24383292
605755; OMIM_ID : 605755;
OMIM_phenotype : ?Deafness, AR 66, 610212 (3) AR;
Nephronophthisis 19, 616217 (3) AR;
Sclerosing cholangitis, neonatal, 617394 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
CPhenoGenius_specificity : C
PhenoGenius_phenotype : .
PhenoGenius_score : 0.12
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:24171755-24383292; 6:24301716-24301846
P_loss_source : dbVar:nssv16215129; morbid:DCDC2
P_loss_phen : ?Deafness, AR 66, 610212 (3) AR; Nephronophthisis 19, 616217 (3) AR; Sclerosing cholangitis, neonatal, 617394 (3) AR
P_loss_hpo : .
13P_snvindel_nb : 13
P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_66; Chylomicron_retention_disease; DCDC2-related_condition; Dyslexia,_susceptibility_to,_2; Isolated_neonatal_sclerosing_cholangitis; Nephronophthisis_19
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ALDH5A1Gene_name : ALDH5A1;
LOEUF_bin : 5
GnomAD_pLI : 3.0504e-07
ExAC_pLI : 2.9043e-03
HI : 30
TS : 0
DDD_HI_percent : 66.91
ACMG : .
ExAC_cnvZ : 0.280707874799752
ExAC_delZ : -0.522020677562331
ExAC_dupZ : 0.759118971473947
ExAC_synZ : 0.955192228684417
ExAC_misZ : 0.696433998764486
GenCC_disease : succinic semialdehyde dehydrogenase deficiency
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 11544478; 14635103; 16542398; 19172412; 20301374; 20301374[PMID]; 22437753; 25431891; 26268900; 9683595
NCBI_gene_ID : 7915
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_170740
Tx_version : 1
Tx_start : 24494968
Tx_end : 24537207
Exon_count : 11
Overlapped_tx_length : 42239
Overlapped_CDS_length : 1647
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24494968
Intersect_end : 24537207
610045; OMIM_ID : 610045;
OMIM_phenotype : Succinic semialdehyde dehydrogenase deficiency, 271980 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:24494969-24537207; 6:24502504-24515330; 6:24504850-24533712; 6:24504860-24533712; 6:24521265-24523718; 6:24527978-24528186; 6:24532100-24533712
P_loss_source : dbVar:nssv15120097; dbVar:nssv15143999; dbVar:nssv17171864; dbVar:nssv17973500; dbVar:nssv17974120; dbVar:nssv18787468; morbid:ALDH5A1
P_loss_phen : Succinic semialdehyde dehydrogenase deficiency, 271980 (3) AR
P_loss_hpo : .
83P_snvindel_nb : 83
P_snvindel_phen : ALDH5A1-related_condition; Inborn_genetic_diseases; See_cases; Succinate-semialdehyde_dehydrogenase_deficiency; not_specified
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
GPX6Gene_name : GPX6;
LOEUF_bin : 8
GnomAD_pLI : 2.5820e-06
ExAC_pLI : 3.1376e-05
HI : .
TS : .
DDD_HI_percent : 76.81
ACMG : .
ExAC_cnvZ : -1.05518340389482
ExAC_delZ : -0.509412956199683
ExAC_dupZ : -1.2221048935749
ExAC_synZ : 1.01105673733967
ExAC_misZ : -0.141267724873126
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 257202
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_182701
Tx_version : 1
Tx_start : 28503295
Tx_end : 28515793
Exon_count : 5
Overlapped_tx_length : 12498
Overlapped_CDS_length : 666
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28503295
Intersect_end : 28515793
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3920Exomiser_gene_pheno_score : 0.3920
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC6Gene_name : H2BC6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8344
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003523
Tx_version : 3
Tx_start : 26183760
Tx_end : 26184230
Exon_count : 1
Overlapped_tx_length : 470
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26183760
Intersect_end : 26184230
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC10Gene_name : H2BC10;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8346
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003525
Tx_version : 3
Tx_start : 26272930
Tx_end : 26273412
Exon_count : 1
Overlapped_tx_length : 482
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26272930
Intersect_end : 26273412
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC5Gene_name : H2BC5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3017
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_138720
Tx_version : 2
Tx_start : 26158120
Tx_end : 26171349
Exon_count : 2
Overlapped_tx_length : 13229
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 97
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26158120
Intersect_end : 26171349
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC8Gene_name : H2BC8;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8339
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003518
Tx_version : 4
Tx_start : 26216199
Tx_end : 26216688
Exon_count : 1
Overlapped_tx_length : 489
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26216199
Intersect_end : 26216688
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3831Exomiser_gene_pheno_score : 0.3831
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
CMAHPGene_name : CMAHP;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8418
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_002174
Tx_version : 2
Tx_start : 25081066
Tx_end : 25137823
Exon_count : 13
Overlapped_tx_length : 56757
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25081066
Intersect_end : 25137823
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.3707Exomiser_gene_pheno_score : 0.3707
Human_pheno_evidence : .
Mouse_pheno_evidence : Craniosynostosis; abnormal semicircular canal morphology
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SLC17A3Gene_name : SLC17A3;
LOEUF_bin : 8
GnomAD_pLI : 4.9259e-22
ExAC_pLI : 9.8821e-14
HI : .
TS : .
DDD_HI_percent : 89.52
ACMG : .
ExAC_cnvZ : -0.176800179455056
ExAC_delZ : -1.30354506584814
ExAC_dupZ : 0.686146923083172
ExAC_synZ : -0.122368874197925
ExAC_misZ : -1.67913206147792
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10786
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001098486
Tx_version : 2
Tx_start : 25844855
Tx_end : 25874243
Exon_count : 13
Overlapped_tx_length : 29388
Overlapped_CDS_length : 1497
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25844855
Intersect_end : 25874243
611034; OMIM_ID : 611034;
OMIM_phenotype : [Uric acid concentration, serum, QTL4], 612671 (3) AD;
(Gout susceptibility 4), 612671 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C11Gene_name : H4C11;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : Tessadori-van Haaften neurodevelopmental syndrome 2
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 8363
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_021968
Tx_version : 4
Tx_start : 27824091
Tx_end : 27824480
Exon_count : 1
Overlapped_tx_length : 389
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27824091
Intersect_end : 27824480
602826; OMIM_ID : 602826;
OMIM_phenotype : ?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2, 619759 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:27823835-27828656
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
C6orf62Gene_name : C6orf62;
LOEUF_bin : 0
GnomAD_pLI : 9.8336e-01
ExAC_pLI : 9.4656e-01
HI : .
TS : .
DDD_HI_percent : 7.07
ACMG : .
ExAC_cnvZ : 0.855955050145063
ExAC_delZ : 0.736443595986406
ExAC_dupZ : 0.610144426130287
ExAC_synZ : -0.757561565989339
ExAC_misZ : 1.23541417134581
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 81688
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_030939
Tx_version : 5
Tx_start : 24704860
Tx_end : 24719154
Exon_count : 5
Overlapped_tx_length : 14294
Overlapped_CDS_length : 690
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24704860
Intersect_end : 24719154
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZNF184Gene_name : ZNF184;
LOEUF_bin : 2
GnomAD_pLI : 3.6775e-03
ExAC_pLI : 1.3375e-01
HI : .
TS : .
DDD_HI_percent : 68.17
ACMG : .
ExAC_cnvZ : -0.345337948849365
ExAC_delZ : 0.470844840569338
ExAC_dupZ : -0.70814356091809
ExAC_synZ : -0.207361404628096
ExAC_misZ : 2.26832507953413
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7738
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001318891
Tx_version : 2
Tx_start : 27450746
Tx_end : 27473105
Exon_count : 6
Overlapped_tx_length : 22359
Overlapped_CDS_length : 2256
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27450746
Intersect_end : 27473105
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
GPLD1Gene_name : GPLD1;
LOEUF_bin : 4
GnomAD_pLI : 1.5871e-15
ExAC_pLI : 5.6395e-09
HI : .
TS : .
DDD_HI_percent : 73.21
ACMG : .
ExAC_cnvZ : -0.305491619013996
ExAC_delZ : -0.846275527972768
ExAC_dupZ : -0.00757115246900079
ExAC_synZ : 0.221629576045876
ExAC_misZ : -0.918500531259346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 2822
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : XM_017010753
Tx_version : 3
Tx_start : 24425831
Tx_end : 24495287
Exon_count : 26
Overlapped_tx_length : 69456
Overlapped_CDS_length : 2553
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24425831
Intersect_end : 24495287
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
15P_snvindel_nb : 15
P_snvindel_phen : Succinate-semialdehyde_dehydrogenase_deficiency
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN12Gene_name : ZSCAN12;
LOEUF_bin : 4
GnomAD_pLI : 2.1145e-07
ExAC_pLI : 1.4399e-05
HI : .
TS : .
DDD_HI_percent : 77.66
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.231928212502194
ExAC_misZ : 0.265981237302912
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9753
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_047419595
Tx_version : 1
Tx_start : 28382522
Tx_end : 28399747
Exon_count : 6
Overlapped_tx_length : 17225
Overlapped_CDS_length : 1836
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28382522
Intersect_end : 28399747
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
PRSS16Gene_name : PRSS16;
LOEUF_bin : 4
GnomAD_pLI : 4.0615e-07
ExAC_pLI : 2.2379e-06
HI : .
TS : .
DDD_HI_percent : 76.67
ACMG : .
ExAC_cnvZ : -0.60779582874506
ExAC_delZ : -0.963246906200393
ExAC_dupZ : -0.360211832842989
ExAC_synZ : 2.15158043942622
ExAC_misZ : 2.49984597612065
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10279
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_005865
Tx_version : 4
Tx_start : 27247700
Tx_end : 27256620
Exon_count : 12
Overlapped_tx_length : 8920
Overlapped_CDS_length : 1545
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27247700
Intersect_end : 27256620
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZKSCAN4Gene_name : ZKSCAN4;
LOEUF_bin : 4
GnomAD_pLI : 1.4184e-04
ExAC_pLI : 6.7429e-05
HI : .
TS : .
DDD_HI_percent : 76.51
ACMG : .
ExAC_cnvZ : 0.698964911899107
ExAC_delZ : 0.0316801248539122
ExAC_dupZ : 0.876728399064605
ExAC_synZ : 1.53615155420822
ExAC_misZ : 1.79373883237546
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387032
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_005249095
Tx_version : 4
Tx_start : 28241696
Tx_end : 28252945
Exon_count : 6
Overlapped_tx_length : 11249
Overlapped_CDS_length : 1638
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28241696
Intersect_end : 28252945
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZKSCAN8Gene_name : ZKSCAN8;
LOEUF_bin : 4
GnomAD_pLI : 1.7574e-07
ExAC_pLI : 2.3159e-04
HI : .
TS : .
DDD_HI_percent : 44.08
ACMG : .
ExAC_cnvZ : 0.839100492871045
ExAC_delZ : 0.197570375254987
ExAC_dupZ : 0.978978411868573
ExAC_synZ : -0.268369374170603
ExAC_misZ : 0.941369732396183
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7745
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_017011266
Tx_version : 3
Tx_start : 28141634
Tx_end : 28159460
Exon_count : 6
Overlapped_tx_length : 17826
Overlapped_CDS_length : 1737
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28141634
Intersect_end : 28159460
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
NKAPLGene_name : NKAPL;
LOEUF_bin : 5
GnomAD_pLI : 9.2219e-05
ExAC_pLI : 1.6562e-04
HI : .
TS : .
DDD_HI_percent : 82.24
ACMG : .
ExAC_cnvZ : 0.528951308377169
ExAC_delZ : 0.185588308965597
ExAC_dupZ : 0.442521045576282
ExAC_synZ : 2.25799328260214
ExAC_misZ : 1.5614874474037
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 222698
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001007531
Tx_version : 3
Tx_start : 28259296
Tx_end : 28260958
Exon_count : 1
Overlapped_tx_length : 1662
Overlapped_CDS_length : 1209
Overlapped_CDS_percent : 76
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28259296
Intersect_end : 28260958
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
KIAA0319Gene_name : KIAA0319;
LOEUF_bin : 5
GnomAD_pLI : 3.3234e-20
ExAC_pLI : 7.9579e-12
HI : .
TS : .
DDD_HI_percent : 73.37
ACMG : .
ExAC_cnvZ : 1.3519700358636
ExAC_delZ : 1.22041569714049
ExAC_dupZ : 1.05078570843097
ExAC_synZ : 0.412400632560343
ExAC_misZ : -0.739034046093914
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9856
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_001168375
Tx_version : 2
Tx_start : 24544106
Tx_end : 24646191
Exon_count : 21
Overlapped_tx_length : 102085
Overlapped_CDS_length : 3219
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24544106
Intersect_end : 24646191
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
MRS2Gene_name : MRS2;
LOEUF_bin : 5
GnomAD_pLI : 1.9516e-08
ExAC_pLI : 8.8458e-05
HI : .
TS : .
DDD_HI_percent : 32.1
ACMG : .
ExAC_cnvZ : -0.231794095758456
ExAC_delZ : -0.494960621803067
ExAC_dupZ : -0.0955132032284613
ExAC_synZ : 0.696433545424764
ExAC_misZ : 1.48243458475782
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57380
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_001286264
Tx_version : 2
Tx_start : 24402935
Tx_end : 24426190
Exon_count : 12
Overlapped_tx_length : 23255
Overlapped_CDS_length : 1341
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24402935
Intersect_end : 24426190
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZNF322Gene_name : ZNF322;
LOEUF_bin : 5
GnomAD_pLI : 2.9880e-02
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 55.71
ACMG : .
ExAC_cnvZ : 0.335049178581807
ExAC_delZ : 0.339787359568575
ExAC_dupZ : 0.14246114311273
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79692
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001242797
Tx_version : 2
Tx_start : 26634382
Tx_end : 26659746
Exon_count : 5
Overlapped_tx_length : 25364
Overlapped_CDS_length : 1209
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26634382
Intersect_end : 26659746
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ABT1Gene_name : ABT1;
LOEUF_bin : 5
GnomAD_pLI : 2.0296e-02
ExAC_pLI : 2.7106e-02
HI : .
TS : .
DDD_HI_percent : 68.44
ACMG : .
ExAC_cnvZ : -0.155226796935508
ExAC_delZ : -0.318993779065711
ExAC_dupZ : -0.0723944953356549
ExAC_synZ : -0.467709789460022
ExAC_misZ : 1.66860783818289
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 29777
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_013375
Tx_version : 4
Tx_start : 26596952
Tx_end : 26600739
Exon_count : 3
Overlapped_tx_length : 3787
Overlapped_CDS_length : 819
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26596952
Intersect_end : 26600739
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:26587795-26601188
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
HDGFL1Gene_name : HDGFL1;
LOEUF_bin : 5
GnomAD_pLI : 5.8681e-02
ExAC_pLI : 3.1334e-01
HI : .
TS : .
DDD_HI_percent : 93.77
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 2.54163041946051
ExAC_misZ : 1.71503686926376
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 154150
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_138574
Tx_version : 4
Tx_start : 22569565
Tx_end : 22571666
Exon_count : 1
Overlapped_tx_length : 2101
Overlapped_CDS_length : 756
Overlapped_CDS_percent : 36
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22569565
Intersect_end : 22571666
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZNF165Gene_name : ZNF165;
LOEUF_bin : 6
GnomAD_pLI : 9.1110e-09
ExAC_pLI : 5.6329e-04
HI : .
TS : .
DDD_HI_percent : 85.11
ACMG : .
ExAC_cnvZ : 0.65258906466685
ExAC_delZ : 0.0258664142215883
ExAC_dupZ : 0.816457690828695
ExAC_synZ : 0.0875501556738906
ExAC_misZ : 0.189444805253221
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7718
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001376491
Tx_version : 1
Tx_start : 28080567
Tx_end : 28089563
Exon_count : 4
Overlapped_tx_length : 8996
Overlapped_CDS_length : 1458
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28080567
Intersect_end : 28089563
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:28026540-28125186
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
TRIM38Gene_name : TRIM38;
LOEUF_bin : 6
GnomAD_pLI : 1.3947e-08
ExAC_pLI : 4.7513e-06
HI : .
TS : .
DDD_HI_percent : 89.65
ACMG : .
ExAC_cnvZ : 0.342910255874873
ExAC_delZ : -0.0516971288126245
ExAC_dupZ : 0.428481510580904
ExAC_synZ : 1.23559819190761
ExAC_misZ : 0.452114348452051
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10475
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_006355
Tx_version : 5
Tx_start : 25962801
Tx_end : 25991231
Exon_count : 8
Overlapped_tx_length : 28430
Overlapped_CDS_length : 1398
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25962801
Intersect_end : 25991231
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN3A1Gene_name : BTN3A1;
LOEUF_bin : 6
GnomAD_pLI : 5.8712e-09
ExAC_pLI : 8.6511e-07
HI : .
TS : .
DDD_HI_percent : 97.54
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.44530440851597
ExAC_misZ : 0.843323228911861
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11119
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_007048
Tx_version : 6
Tx_start : 26402274
Tx_end : 26415208
Exon_count : 10
Overlapped_tx_length : 12934
Overlapped_CDS_length : 1542
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26402274
Intersect_end : 26415208
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:26367772-26442772; chr6:26368480-26444267
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN2A2Gene_name : BTN2A2;
LOEUF_bin : 6
GnomAD_pLI : 1.3821e-11
ExAC_pLI : 1.5029e-04
HI : .
TS : .
DDD_HI_percent : 88.35
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.460861086231153
ExAC_misZ : 0.106145615608062
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10385
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001197237
Tx_version : 2
Tx_start : 26383107
Tx_end : 26394874
Exon_count : 8
Overlapped_tx_length : 11767
Overlapped_CDS_length : 1572
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26383107
Intersect_end : 26394874
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26368701-26405919; chr6:26369272-26405772
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26367772-26442772; chr6:26368480-26444267; chr6:26368701-26405919; chr6:26368772-26405772
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN31Gene_name : ZSCAN31;
LOEUF_bin : 6
GnomAD_pLI : 3.6470e-08
ExAC_pLI : 3.7713e-09
HI : .
TS : .
DDD_HI_percent : 87.34
ACMG : .
ExAC_cnvZ : 0.0151538266851578
ExAC_delZ : -1.46841729517335
ExAC_dupZ : 1.32156943181946
ExAC_synZ : -0.647327106096929
ExAC_misZ : -0.400370945440304
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64288
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001135215
Tx_version : 1
Tx_start : 28324736
Tx_end : 28356271
Exon_count : 8
Overlapped_tx_length : 31535
Overlapped_CDS_length : 1221
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28324736
Intersect_end : 28356271
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZKSCAN3Gene_name : ZKSCAN3;
LOEUF_bin : 6
GnomAD_pLI : 1.9697e-11
ExAC_pLI : 1.2261e-04
HI : .
TS : .
DDD_HI_percent : 81.15
ACMG : .
ExAC_cnvZ : 0.494679883689265
ExAC_delZ : -0.177909713026404
ExAC_dupZ : 0.715557170182653
ExAC_synZ : 0.754433399252584
ExAC_misZ : 1.53111151240202
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80317
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_006715215
Tx_version : 3
Tx_start : 28349877
Tx_end : 28369172
Exon_count : 6
Overlapped_tx_length : 19295
Overlapped_CDS_length : 1617
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28349877
Intersect_end : 28369172
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SLC17A4Gene_name : SLC17A4;
LOEUF_bin : 6
GnomAD_pLI : 1.5714e-09
ExAC_pLI : 6.3342e-06
HI : .
TS : .
DDD_HI_percent : 88.38
ACMG : .
ExAC_cnvZ : 0.397793404710312
ExAC_delZ : 0.687034645245354
ExAC_dupZ : 0.141599047914189
ExAC_synZ : -0.231624730003496
ExAC_misZ : -0.962202641694695
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10050
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : XM_024446295
Tx_version : 2
Tx_start : 25754698
Tx_end : 25781199
Exon_count : 13
Overlapped_tx_length : 26501
Overlapped_CDS_length : 1494
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25754698
Intersect_end : 25781199
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
OR2B6Gene_name : OR2B6;
LOEUF_bin : 6
GnomAD_pLI : 3.4004e-03
ExAC_pLI : 4.0731e-02
HI : .
TS : .
DDD_HI_percent : 81.77
ACMG : .
ExAC_cnvZ : 0.575945092458564
ExAC_delZ : 0.854702399371968
ExAC_dupZ : 0.251658481151264
ExAC_synZ : -0.231814784429582
ExAC_misZ : -0.584585255976105
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26212
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_012367
Tx_version : 1
Tx_start : 27957240
Tx_end : 27958182
Exon_count : 1
Overlapped_tx_length : 942
Overlapped_CDS_length : 942
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27957240
Intersect_end : 27958182
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN1A1Gene_name : BTN1A1;
LOEUF_bin : 6
GnomAD_pLI : 1.9496e-08
ExAC_pLI : 1.1409e-09
HI : .
TS : .
DDD_HI_percent : 80.28
ACMG : .
ExAC_cnvZ : 0.128239156319701
ExAC_delZ : 0.136553735535588
ExAC_dupZ : 0.0710756264844404
ExAC_synZ : 2.16656725261637
ExAC_misZ : 1.97529720274343
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 696
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001732
Tx_version : 3
Tx_start : 26500302
Tx_end : 26510425
Exon_count : 8
Overlapped_tx_length : 10123
Overlapped_CDS_length : 1581
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26500302
Intersect_end : 26510425
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
OR2B2Gene_name : OR2B2;
LOEUF_bin : 6
GnomAD_pLI : 9.9618e-03
ExAC_pLI : 6.8672e-05
HI : .
TS : .
DDD_HI_percent : 80.52
ACMG : .
ExAC_cnvZ : -0.379786757730926
ExAC_delZ : 0.332073648464813
ExAC_dupZ : -0.698293514906744
ExAC_synZ : -0.102920131728861
ExAC_misZ : 0.516400250627411
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 81697
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_033057
Tx_version : 2
Tx_start : 27911184
Tx_end : 27912396
Exon_count : 1
Overlapped_tx_length : 1212
Overlapped_CDS_length : 1074
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27911184
Intersect_end : 27912396
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27885222-27918422
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SCGNGene_name : SCGN;
LOEUF_bin : 7
GnomAD_pLI : 2.3395e-11
ExAC_pLI : 3.5946e-02
HI : .
TS : .
DDD_HI_percent : 76.3
ACMG : .
ExAC_cnvZ : 0.148846163178072
ExAC_delZ : 0.945700400995126
ExAC_dupZ : -0.288894944101178
ExAC_synZ : 0.479526702648331
ExAC_misZ : 0.455132487853954
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10590
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_006998
Tx_version : 4
Tx_start : 25652214
Tx_end : 25701783
Exon_count : 11
Overlapped_tx_length : 49569
Overlapped_CDS_length : 831
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25652214
Intersect_end : 25701783
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
GPX5Gene_name : GPX5;
LOEUF_bin : 7
GnomAD_pLI : 5.5229e-04
ExAC_pLI : 8.8847e-03
HI : .
TS : .
DDD_HI_percent : 49.84
ACMG : .
ExAC_cnvZ : -0.332494471600738
ExAC_delZ : 0.533785962695656
ExAC_dupZ : -0.765539302151412
ExAC_synZ : 0.692256063929677
ExAC_misZ : 0.0281415145557814
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 2880
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001509
Tx_version : 3
Tx_start : 28525880
Tx_end : 28534955
Exon_count : 5
Overlapped_tx_length : 9075
Overlapped_CDS_length : 666
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28525880
Intersect_end : 28534955
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN23Gene_name : ZSCAN23;
LOEUF_bin : 7
GnomAD_pLI : 4.1094e-10
ExAC_pLI : 2.7030e-03
HI : .
TS : .
DDD_HI_percent : 81
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.2932412126686
ExAC_misZ : 0.476545070090048
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 222696
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_047418384
Tx_version : 1
Tx_start : 28427061
Tx_end : 28443491
Exon_count : 5
Overlapped_tx_length : 16430
Overlapped_CDS_length : 1170
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28427061
Intersect_end : 28443491
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN9Gene_name : ZSCAN9;
LOEUF_bin : 7
GnomAD_pLI : 1.7236e-11
ExAC_pLI : 4.1025e-08
HI : .
TS : .
DDD_HI_percent : 88.39
ACMG : .
ExAC_cnvZ : 0.228164025858565
ExAC_delZ : -0.436298119910846
ExAC_dupZ : 0.49812056215991
ExAC_synZ : -0.445045614928375
ExAC_misZ : -0.262427444172949
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7746
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_011514875
Tx_version : 3
Tx_start : 28225416
Tx_end : 28233487
Exon_count : 5
Overlapped_tx_length : 8071
Overlapped_CDS_length : 1752
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28225416
Intersect_end : 28233487
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SLC17A1Gene_name : SLC17A1;
LOEUF_bin : 7
GnomAD_pLI : 4.1179e-16
ExAC_pLI : 2.5926e-10
HI : .
TS : .
DDD_HI_percent : 90.57
ACMG : .
ExAC_cnvZ : 0.78593615836014
ExAC_delZ : 0.938881333852113
ExAC_dupZ : 0.460893391505868
ExAC_synZ : 0.0610337146392267
ExAC_misZ : -0.692807040838967
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6568
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : XM_017011201
Tx_version : 3
Tx_start : 25723742
Tx_end : 25832052
Exon_count : 13
Overlapped_tx_length : 108310
Overlapped_CDS_length : 1404
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25723742
Intersect_end : 25832052
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN3A2Gene_name : BTN3A2;
LOEUF_bin : 7
GnomAD_pLI : 1.1002e-10
ExAC_pLI : 1.2452e-04
HI : .
TS : .
DDD_HI_percent : 99.12
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 2.17855998447766
ExAC_misZ : 1.82482704691632
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11118
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : XM_006714979
Tx_version : 5
Tx_start : 26365197
Tx_end : 26378312
Exon_count : 11
Overlapped_tx_length : 13115
Overlapped_CDS_length : 1020
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26365197
Intersect_end : 26378312
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZNF391Gene_name : ZNF391;
LOEUF_bin : 7
GnomAD_pLI : 6.4452e-08
ExAC_pLI : 9.2587e-07
HI : .
TS : .
DDD_HI_percent : 89.16
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.227953079019363
ExAC_misZ : -0.236412306340084
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 346157
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001322288
Tx_version : 2
Tx_start : 27374614
Tx_end : 27403908
Exon_count : 4
Overlapped_tx_length : 29294
Overlapped_CDS_length : 1077
Overlapped_CDS_percent : 30
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27374614
Intersect_end : 27403908
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN16Gene_name : ZSCAN16;
LOEUF_bin : 7
GnomAD_pLI : 2.1302e-07
ExAC_pLI : 2.6730e-06
HI : .
TS : .
DDD_HI_percent : 83.88
ACMG : .
ExAC_cnvZ : -0.317024963420819
ExAC_delZ : -1.27413493443702
ExAC_dupZ : 0.417663222357123
ExAC_synZ : 0.409694085063461
ExAC_misZ : -0.100756897673369
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80345
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001320555
Tx_version : 2
Tx_start : 28124608
Tx_end : 28130082
Exon_count : 4
Overlapped_tx_length : 5474
Overlapped_CDS_length : 1047
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28124608
Intersect_end : 28130082
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
PRLGene_name : PRL;
LOEUF_bin : 7
GnomAD_pLI : 2.9015e-07
ExAC_pLI : 2.6411e-03
HI : .
TS : .
DDD_HI_percent : 2.27
ACMG : .
ExAC_cnvZ : -0.526966107878061
ExAC_delZ : -1.67586153413586
ExAC_dupZ : 0.414981664841005
ExAC_synZ : 0.497455516550803
ExAC_misZ : 1.24201734811389
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5617
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : XM_011514753
Tx_version : 3
Tx_start : 22287245
Tx_end : 22302835
Exon_count : 6
Overlapped_tx_length : 15590
Overlapped_CDS_length : 687
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22287245
Intersect_end : 22302835
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:22270909-22331689
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:22274500-22346259
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN3A3Gene_name : BTN3A3;
LOEUF_bin : 8
GnomAD_pLI : 1.1892e-18
ExAC_pLI : 7.1902e-10
HI : .
TS : .
DDD_HI_percent : 99.07
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.88810113743281
ExAC_misZ : 0.221188992707095
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10384
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_006994
Tx_version : 5
Tx_start : 26440503
Tx_end : 26453415
Exon_count : 11
Overlapped_tx_length : 12912
Overlapped_CDS_length : 1755
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26440503
Intersect_end : 26453415
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26427232-26464632
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26428980-26466231
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
NRSN1Gene_name : NRSN1;
LOEUF_bin : 8
GnomAD_pLI : 3.0819e-04
ExAC_pLI : 4.3073e-03
HI : .
TS : .
DDD_HI_percent : 71.68
ACMG : .
ExAC_cnvZ : 0.683322377410073
ExAC_delZ : 0.21461519014493
ExAC_dupZ : 0.614244879458606
ExAC_synZ : 0.6333385785481
ExAC_misZ : 0.644091415284998
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140767
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_080723
Tx_version : 5
Tx_start : 24126214
Tx_end : 24147530
Exon_count : 4
Overlapped_tx_length : 21316
Overlapped_CDS_length : 588
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24126214
Intersect_end : 24147530
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:24064663-24179744
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ACOT13Gene_name : ACOT13;
LOEUF_bin : 9
GnomAD_pLI : 3.1271e-06
ExAC_pLI : 3.4293e-05
HI : .
TS : .
DDD_HI_percent : 68.53
ACMG : .
ExAC_cnvZ : 0.522667781559352
ExAC_delZ : 0.383384854637078
ExAC_dupZ : 0.35179518565656
ExAC_synZ : 0.383753367606661
ExAC_misZ : 0.325459033193908
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55856
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_018473
Tx_version : 4
Tx_start : 24667076
Tx_end : 24705046
Exon_count : 3
Overlapped_tx_length : 37970
Overlapped_CDS_length : 423
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24667076
Intersect_end : 24705046
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
KAAG1Gene_name : KAAG1;
LOEUF_bin : 9
GnomAD_pLI : 2.8715e-01
ExAC_pLI : 1.9191e-02
HI : .
TS : .
DDD_HI_percent : 82.43
ACMG : .
ExAC_cnvZ : 0.589183439941754
ExAC_delZ : 0.153273437227383
ExAC_dupZ : 0.549237454119407
ExAC_synZ : 2.35949023520648
ExAC_misZ : 1.79064074543529
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 353219
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_174942
Tx_version : 1
Tx_start : 24356902
Tx_end : 24358285
Exon_count : 1
Overlapped_tx_length : 1383
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24356902
Intersect_end : 24358285
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_66; Dyslexia,_susceptibility_to,_2; Isolated_neonatal_sclerosing_cholangitis; Nephronophthisis_19
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
POM121L2Gene_name : POM121L2;
LOEUF_bin : 9
GnomAD_pLI : 3.2747e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 96.62
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 94026
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_033482
Tx_version : 4
Tx_start : 27308376
Tx_end : 27312273
Exon_count : 1
Overlapped_tx_length : 3897
Overlapped_CDS_length : 3108
Overlapped_CDS_percent : 96
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27308376
Intersect_end : 27312273
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN2A1Gene_name : BTN2A1;
LOEUF_bin : 9
GnomAD_pLI : 3.3959e-21
ExAC_pLI : 1.0747e-18
HI : .
TS : .
DDD_HI_percent : 89.63
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.678352575230947
ExAC_misZ : -1.09220754057245
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11120
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_007049
Tx_version : 5
Tx_start : 26457954
Tx_end : 26469637
Exon_count : 8
Overlapped_tx_length : 11683
Overlapped_CDS_length : 1584
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26457954
Intersect_end : 26469637
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
HMGN4Gene_name : HMGN4;
LOEUF_bin : 9
GnomAD_pLI : 3.1986e-01
ExAC_pLI : 5.5708e-01
HI : .
TS : .
DDD_HI_percent : 83.25
ACMG : .
ExAC_cnvZ : 0.11751368424678
ExAC_delZ : -0.0209195723894949
ExAC_dupZ : 0.118365986956158
ExAC_synZ : 0.220745524820524
ExAC_misZ : 0.177226292247615
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10473
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_006353
Tx_version : 3
Tx_start : 26538365
Tx_end : 26546933
Exon_count : 2
Overlapped_tx_length : 8568
Overlapped_CDS_length : 273
Overlapped_CDS_percent : 15
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26538365
Intersect_end : 26546933
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC3Gene_name : H2BC3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3018
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_021062
Tx_version : 3
Tx_start : 26043226
Tx_end : 26043713
Exon_count : 1
Overlapped_tx_length : 487
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26043226
Intersect_end : 26043713
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26025922-26045396
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC6-AS1Gene_name : H2BC6-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128266838
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_186648
Tx_version : 1
Tx_start : 26160273
Tx_end : 26172773
Exon_count : 3
Overlapped_tx_length : 12500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26160273
Intersect_end : 26172773
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZKSCAN8P1Gene_name : ZKSCAN8P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 651302
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_103448
Tx_version : 1
Tx_start : 28161760
Tx_end : 28169595
Exon_count : 5
Overlapped_tx_length : 7835
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28161760
Intersect_end : 28169595
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZNF204PGene_name : ZNF204P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7754
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_024553
Tx_version : 1
Tx_start : 27357822
Tx_end : 27375374
Exon_count : 5
Overlapped_tx_length : 17552
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27357822
Intersect_end : 27375374
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
TOB2P1Gene_name : TOB2P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 222699
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_002936
Tx_version : 2
Tx_start : 28215337
Tx_end : 28218929
Exon_count : 1
Overlapped_tx_length : 3592
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28215337
Intersect_end : 28218929
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
CASC15Gene_name : CASC15;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 401237
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_015410
Tx_version : 2
Tx_start : 21666412
Tx_end : 22195820
Exon_count : 12
Overlapped_tx_length : 529408
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 21666412
Intersect_end : 22195820
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC13Gene_name : H2AC13;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8329
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003509
Tx_version : 3
Tx_start : 27808172
Tx_end : 27808667
Exon_count : 1
Overlapped_tx_length : 495
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 85
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27808172
Intersect_end : 27808667
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27804832-27808998
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:27806597-27814680
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
VN1R10PGene_name : VN1R10P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387316
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_045612
Tx_version : 1
Tx_start : 27324760
Tx_end : 27325963
Exon_count : 1
Overlapped_tx_length : 1203
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27324760
Intersect_end : 27325963
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C11Gene_name : H3C11;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8354
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003533
Tx_version : 3
Tx_start : 27871844
Tx_end : 27872346
Exon_count : 1
Overlapped_tx_length : 502
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27871844
Intersect_end : 27872346
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
HCG11Gene_name : HCG11;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 493812
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_026790
Tx_version : 1
Tx_start : 26521705
Tx_end : 26527393
Exon_count : 1
Overlapped_tx_length : 5688
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26521705
Intersect_end : 26527393
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:26510772-26531772
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC11Gene_name : H2AC11;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8969
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_021064
Tx_version : 5
Tx_start : 27133042
Tx_end : 27133535
Exon_count : 1
Overlapped_tx_length : 493
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 84
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27133042
Intersect_end : 27133535
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC7Gene_name : H2AC7;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3013
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_021065
Tx_version : 3
Tx_start : 26198783
Tx_end : 26199293
Exon_count : 1
Overlapped_tx_length : 510
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26198783
Intersect_end : 26199293
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26196282-26207207
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C6Gene_name : H4C6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8361
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003540
Tx_version : 4
Tx_start : 26240392
Tx_end : 26240793
Exon_count : 1
Overlapped_tx_length : 401
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 84
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26240392
Intersect_end : 26240793
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:26238906-26240959
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
NBAT1Gene_name : NBAT1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 729177
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_034143
Tx_version : 1
Tx_start : 22134601
Tx_end : 22147193
Exon_count : 3
Overlapped_tx_length : 12592
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22134601
Intersect_end : 22147193
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C12Gene_name : H3C12;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8356
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003535
Tx_version : 3
Tx_start : 27890314
Tx_end : 27890826
Exon_count : 1
Overlapped_tx_length : 512
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27890314
Intersect_end : 27890826
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27885222-27918422
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ARMH2Gene_name : ARMH2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928603
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : NM_001282492
Tx_version : 2
Tx_start : 24797334
Tx_end : 24798917
Exon_count : 2
Overlapped_tx_length : 1583
Overlapped_CDS_length : 693
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24797334
Intersect_end : 24798917
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC7Gene_name : H2BC7;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8343
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003522
Tx_version : 4
Tx_start : 26199515
Tx_end : 26199988
Exon_count : 1
Overlapped_tx_length : 473
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26199515
Intersect_end : 26199988
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26196282-26207207
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
OR2B8PGene_name : OR2B8P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 65944
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_174096
Tx_version : 1
Tx_start : 28053227
Tx_end : 28054202
Exon_count : 1
Overlapped_tx_length : 975
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28053227
Intersect_end : 28054202
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:28026540-28125186
B_gain_AFmax : 0.01
B_loss_source : 1000g; dbVar
B_loss_coord : chr6:28052018-28055080; 6:28052019-28055080; chr6:28052104-28056152
B_loss_AFmax : 0.0133
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC1Gene_name : H2BC1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 255626
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_170610
Tx_version : 3
Tx_start : 25726776
Tx_end : 25727345
Exon_count : 1
Overlapped_tx_length : 569
Overlapped_CDS_length : 384
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25726776
Intersect_end : 25727345
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C6Gene_name : H3C6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8353
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001381999
Tx_version : 1
Tx_start : 26224177
Tx_end : 26227473
Exon_count : 2
Overlapped_tx_length : 3296
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 17
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26224177
Intersect_end : 26227473
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC2PGene_name : H2AC2P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387319
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_045125
Tx_version : 2
Tx_start : 25732380
Tx_end : 25737705
Exon_count : 2
Overlapped_tx_length : 5325
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25732380
Intersect_end : 25737705
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC14Gene_name : H2BC14;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8342
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003521
Tx_version : 3
Tx_start : 27815021
Tx_end : 27815489
Exon_count : 1
Overlapped_tx_length : 468
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 85
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27815021
Intersect_end : 27815489
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC15Gene_name : H2BC15;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8341
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003520
Tx_version : 4
Tx_start : 27838568
Tx_end : 27839110
Exon_count : 1
Overlapped_tx_length : 542
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 84
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27838568
Intersect_end : 27839110
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27827497-27839980
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:27828961-27841298
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC6Gene_name : H2AC6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8334
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003512
Tx_version : 4
Tx_start : 26124171
Tx_end : 26124690
Exon_count : 1
Overlapped_tx_length : 519
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 85
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26124171
Intersect_end : 26124690
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C13Gene_name : H4C13;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8368
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003546
Tx_version : 3
Tx_start : 27873147
Tx_end : 27873534
Exon_count : 1
Overlapped_tx_length : 387
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27873147
Intersect_end : 27873534
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C3Gene_name : H3C3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8352
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003531
Tx_version : 3
Tx_start : 26045383
Tx_end : 26045869
Exon_count : 1
Overlapped_tx_length : 486
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26045383
Intersect_end : 26045869
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC12Gene_name : H2BC12;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 85236
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_080593
Tx_version : 2
Tx_start : 27138292
Tx_end : 27146858
Exon_count : 2
Overlapped_tx_length : 8566
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 86
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27138292
Intersect_end : 27146858
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : 6:27139282-27139678
P_loss_source : morbid:H4C9
P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C2Gene_name : H4C2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8366
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003544
Tx_version : 3
Tx_start : 26026895
Tx_end : 26027283
Exon_count : 1
Overlapped_tx_length : 388
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 90
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26026895
Intersect_end : 26027283
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26025922-26045396
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H1-2Gene_name : H1-2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3006
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_005319
Tx_version : 4
Tx_start : 26055739
Tx_end : 26056470
Exon_count : 1
Overlapped_tx_length : 731
Overlapped_CDS_length : 642
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26055739
Intersect_end : 26056470
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC13Gene_name : H2BC13;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8340
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003519
Tx_version : 4
Tx_start : 27807478
Tx_end : 27807929
Exon_count : 1
Overlapped_tx_length : 451
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 94
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27807478
Intersect_end : 27807929
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27804832-27808998
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:27806597-27814680
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LARRPMGene_name : LARRPM;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100270746
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_026776
Tx_version : 1
Tx_start : 27019365
Tx_end : 27020306
Exon_count : 1
Overlapped_tx_length : 941
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27019365
Intersect_end : 27020306
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC9Gene_name : H2BC9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8345
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003524
Tx_version : 3
Tx_start : 26251613
Tx_end : 26252075
Exon_count : 1
Overlapped_tx_length : 462
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26251613
Intersect_end : 26252075
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C4Gene_name : H3C4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8351
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003530
Tx_version : 4
Tx_start : 26196783
Tx_end : 26199293
Exon_count : 2
Overlapped_tx_length : 2510
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 95
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26196783
Intersect_end : 26199293
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26196282-26207207
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H1-1Gene_name : H1-1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3024
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_005325
Tx_version : 4
Tx_start : 26017031
Tx_end : 26017787
Exon_count : 1
Overlapped_tx_length : 756
Overlapped_CDS_length : 648
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26017031
Intersect_end : 26017787
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC4Gene_name : H2BC4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8347
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_001381989
Tx_version : 1
Tx_start : 26113169
Tx_end : 26123926
Exon_count : 2
Overlapped_tx_length : 10757
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 94
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26113169
Intersect_end : 26123926
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26103098-26124338
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
GUSBP2Gene_name : GUSBP2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387036
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_003504
Tx_version : 3
Tx_start : 26871486
Tx_end : 26956554
Exon_count : 9
Overlapped_tx_length : 85068
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26871486
Intersect_end : 26956554
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : esv2763937
B_loss_coord : 6:26681694-26995155
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LINC01012Gene_name : LINC01012;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100507173
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_038293
Tx_version : 1
Tx_start : 27694034
Tx_end : 27710222
Exon_count : 3
Overlapped_tx_length : 16188
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27694034
Intersect_end : 27710222
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27535526-27745500; chr6:27688307-27805373
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC17Gene_name : H2AC17;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8336
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003514
Tx_version : 2
Tx_start : 27892698
Tx_end : 27893185
Exon_count : 1
Overlapped_tx_length : 487
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27892698
Intersect_end : 27893185
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27885222-27918422
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
BTN2A3PGene_name : BTN2A3P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 54718
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_027795
Tx_version : 1
Tx_start : 26421390
Tx_end : 26430588
Exon_count : 7
Overlapped_tx_length : 9198
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26421390
Intersect_end : 26430588
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:26367772-26442772; chr6:26368480-26444267
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LINC03005Gene_name : LINC03005;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105374972
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_134614
Tx_version : 1
Tx_start : 22643509
Tx_end : 22717924
Exon_count : 3
Overlapped_tx_length : 74415
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22643509
Intersect_end : 22717924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
HFE-AS1Gene_name : HFE-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 108783645
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_144383
Tx_version : 1
Tx_start : 26086289
Tx_end : 26091034
Exon_count : 2
Overlapped_tx_length : 4745
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26086289
Intersect_end : 26091034
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Abnormality_of_iron_homeostasis; Alzheimer_disease; Bronze_diabetes; Cardiomyopathy; Cystic_fibrosis; Familial_porphyria_cutanea_tarda; Hemochromatosis_type_1; Hereditary_hemochromatosis; Microvascular_complications_of_diabetes,_susceptibility_to,_7; Transferrin_serum_level_quantitative_trait_locus_2; Variegate_porphyria; not_specified
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C8Gene_name : H4C8;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8365
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003543
Tx_version : 4
Tx_start : 26285125
Tx_end : 26285534
Exon_count : 1
Overlapped_tx_length : 409
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26285125
Intersect_end : 26285534
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C7Gene_name : H4C7;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8369
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003547
Tx_version : 3
Tx_start : 26246610
Tx_end : 26246996
Exon_count : 1
Overlapped_tx_length : 386
Overlapped_CDS_length : 297
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26246610
Intersect_end : 26246996
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC16Gene_name : H2AC16;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8332
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003511
Tx_version : 3
Tx_start : 27865316
Tx_end : 27865798
Exon_count : 1
Overlapped_tx_length : 482
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27865316
Intersect_end : 27865798
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C12Gene_name : H4C12;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8362
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003541
Tx_version : 3
Tx_start : 27831173
Tx_end : 27831560
Exon_count : 1
Overlapped_tx_length : 387
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 90
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27831173
Intersect_end : 27831560
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27827497-27839980
B_gain_AFmax : 0.01
B_loss_source : DDD:20109; dbVar
B_loss_coord : chr6:27828961-27841298; 6:27831119-27837503
B_loss_AFmax : 0.0118
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C4Gene_name : H4C4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8360
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003539
Tx_version : 4
Tx_start : 26188709
Tx_end : 26189112
Exon_count : 1
Overlapped_tx_length : 403
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26188709
Intersect_end : 26189112
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C2Gene_name : H3C2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8358
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003537
Tx_version : 4
Tx_start : 26031588
Tx_end : 26032099
Exon_count : 1
Overlapped_tx_length : 511
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26031588
Intersect_end : 26032099
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26025922-26045396
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC12Gene_name : H2AC12;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 85235
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_080596
Tx_version : 3
Tx_start : 27147105
Tx_end : 27147562
Exon_count : 1
Overlapped_tx_length : 457
Overlapped_CDS_length : 387
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27147105
Intersect_end : 27147562
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H4C1Gene_name : H4C1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8359
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003538
Tx_version : 4
Tx_start : 26021648
Tx_end : 26022050
Exon_count : 1
Overlapped_tx_length : 402
Overlapped_CDS_length : 312
Overlapped_CDS_percent : 83
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26021648
Intersect_end : 26022050
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H1-6Gene_name : H1-6;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3010
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_005323
Tx_version : 4
Tx_start : 26107411
Tx_end : 26108135
Exon_count : 1
Overlapped_tx_length : 724
Overlapped_CDS_length : 624
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26107411
Intersect_end : 26108135
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26103098-26124338
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LINC02828Gene_name : LINC02828;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105374978
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_183315
Tx_version : 1
Tx_start : 24742304
Tx_end : 24751960
Exon_count : 3
Overlapped_tx_length : 9656
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24742304
Intersect_end : 24751960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H1-3Gene_name : H1-3;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3007
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_005320
Tx_version : 3
Tx_start : 26234211
Tx_end : 26234987
Exon_count : 1
Overlapped_tx_length : 776
Overlapped_CDS_length : 666
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26234211
Intersect_end : 26234987
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H1-5Gene_name : H1-5;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3009
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_005322
Tx_version : 3
Tx_start : 27866791
Tx_end : 27867588
Exon_count : 1
Overlapped_tx_length : 797
Overlapped_CDS_length : 681
Overlapped_CDS_percent : 92
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27866791
Intersect_end : 27867588
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C10Gene_name : H3C10;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8357
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003536
Tx_version : 3
Tx_start : 27810050
Tx_end : 27810536
Exon_count : 1
Overlapped_tx_length : 486
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27810050
Intersect_end : 27810536
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:27806597-27814680
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
CARMIL1Gene_name : CARMIL1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55604
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : XM_017011008
Tx_version : 2
Tx_start : 25279373
Tx_end : 25620530
Exon_count : 40
Overlapped_tx_length : 341157
Overlapped_CDS_length : 4296
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25279373
Intersect_end : 25620530
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LINC00240Gene_name : LINC00240;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100133205
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_026775
Tx_version : 2
Tx_start : 26956992
Tx_end : 27023974
Exon_count : 3
Overlapped_tx_length : 66982
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26956992
Intersect_end : 27023974
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN26Gene_name : ZSCAN26;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7741
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_001023560
Tx_version : 4
Tx_start : 28267142
Tx_end : 28278204
Exon_count : 4
Overlapped_tx_length : 11062
Overlapped_CDS_length : 1440
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28267142
Intersect_end : 28278204
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN16-AS1Gene_name : ZSCAN16-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100129195
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_103455
Tx_version : 1
Tx_start : 28121794
Tx_end : 28137316
Exon_count : 3
Overlapped_tx_length : 15522
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28121794
Intersect_end : 28137316
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LINC02980Gene_name : LINC02980;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 123706533
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_186641
Tx_version : 1
Tx_start : 25992666
Tx_end : 26001775
Exon_count : 3
Overlapped_tx_length : 9109
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25992666
Intersect_end : 26001775
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC14Gene_name : H2AC14;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8331
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_021066
Tx_version : 3
Tx_start : 27814301
Tx_end : 27814777
Exon_count : 1
Overlapped_tx_length : 476
Overlapped_CDS_length : 387
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27814301
Intersect_end : 27814777
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C8Gene_name : H3C8;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8355
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003534
Tx_version : 3
Tx_start : 26270917
Tx_end : 26271413
Exon_count : 1
Overlapped_tx_length : 496
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26270917
Intersect_end : 26271413
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC17Gene_name : H2BC17;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8348
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003527
Tx_version : 4
Tx_start : 27893424
Tx_end : 27893891
Exon_count : 1
Overlapped_tx_length : 467
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27893424
Intersect_end : 27893891
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27885222-27918422
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2BC11Gene_name : H2BC11;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8970
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_021058
Tx_version : 4
Tx_start : 27132315
Tx_end : 27132795
Exon_count : 1
Overlapped_tx_length : 480
Overlapped_CDS_length : 381
Overlapped_CDS_percent : 89
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27132315
Intersect_end : 27132795
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC1Gene_name : H2AC1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 221613
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_170745
Tx_version : 3
Tx_start : 25726062
Tx_end : 25726562
Exon_count : 1
Overlapped_tx_length : 500
Overlapped_CDS_length : 396
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25726062
Intersect_end : 25726562
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
ZSCAN12P1Gene_name : ZSCAN12P1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 221584
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_024063
Tx_version : 2
Tx_start : 28090806
Tx_end : 28095715
Exon_count : 2
Overlapped_tx_length : 4909
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28090806
Intersect_end : 28095715
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:28026540-28125186
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC4Gene_name : H2AC4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8335
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003513
Tx_version : 3
Tx_start : 26033091
Tx_end : 26033618
Exon_count : 1
Overlapped_tx_length : 527
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 88
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26033091
Intersect_end : 26033618
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26025922-26045396
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC8Gene_name : H2AC8;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3012
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_021052
Tx_version : 4
Tx_start : 26216920
Tx_end : 26217437
Exon_count : 1
Overlapped_tx_length : 517
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 84
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26216920
Intersect_end : 26217437
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
MIR3143Gene_name : MIR3143;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100422934
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_036096
Tx_version : 1
Tx_start : 27147625
Tx_end : 27147688
Exon_count : 1
Overlapped_tx_length : 63
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27147625
Intersect_end : 27147688
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C1Gene_name : H3C1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8350
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_003529
Tx_version : 3
Tx_start : 26020450
Tx_end : 26020958
Exon_count : 1
Overlapped_tx_length : 508
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26020450
Intersect_end : 26020958
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H3C7Gene_name : H3C7;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8968
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : 5'UTR-3'UTR
Tx : NM_021018
Tx_version : 3
Tx_start : 26250141
Tx_end : 26250635
Exon_count : 1
Overlapped_tx_length : 494
Overlapped_CDS_length : 411
Overlapped_CDS_percent : 93
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26250141
Intersect_end : 26250635
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:26249043-26250858
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
H2AC15Gene_name : H2AC15;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8330
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : NM_003510
Tx_version : 3
Tx_start : 27837879
Tx_end : 27838375
Exon_count : 1
Overlapped_tx_length : 496
Overlapped_CDS_length : 393
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27837879
Intersect_end : 27838375
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27827497-27839980
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:27828961-27841298
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901277Gene_name : LOC124901277;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059507
Tx_version : 1
Tx_start : 24535414
Tx_end : 24540052
Exon_count : 2
Overlapped_tx_length : 4638
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24535414
Intersect_end : 24540052
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC107986530Gene_name : LOC107986530;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059906
Tx_version : 1
Tx_start : 25181024
Tx_end : 25181795
Exon_count : 2
Overlapped_tx_length : 771
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25181024
Intersect_end : 25181795
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:25135836-25318772
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901279Gene_name : LOC124901279;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059509
Tx_version : 1
Tx_start : 24669116
Tx_end : 24683275
Exon_count : 2
Overlapped_tx_length : 14159
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24669116
Intersect_end : 24683275
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901291Gene_name : LOC124901291;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_007059534
Tx_version : 1
Tx_start : 27703134
Tx_end : 27710896
Exon_count : 2
Overlapped_tx_length : 7762
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27703134
Intersect_end : 27710896
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27535526-27745500; chr6:27688307-27805373
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:27696799-27711866
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374973Gene_name : LOC105374973;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_001744026
Tx_version : 2
Tx_start : 22644019
Tx_end : 22660022
Exon_count : 5
Overlapped_tx_length : 16003
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22644019
Intersect_end : 22660022
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901483Gene_name : LOC124901483;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : 5'UTR-3'UTR
Tx : XM_047419653
Tx_version : 1
Tx_start : 21664540
Tx_end : 21666060
Exon_count : 3
Overlapped_tx_length : 1520
Overlapped_CDS_length : 582
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 21664540
Intersect_end : 21666060
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901289Gene_name : LOC124901289;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059531
Tx_version : 1
Tx_start : 26787592
Tx_end : 26794826
Exon_count : 4
Overlapped_tx_length : 7234
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26787592
Intersect_end : 26794826
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041; chr6:26730911-26850041
B_gain_AFmax : 0.01
B_loss_source : esv2763937
B_loss_coord : 6:26681694-26995155
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC107986583Gene_name : LOC107986583;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_001744057
Tx_version : 3
Tx_start : 26486648
Tx_end : 26527398
Exon_count : 4
Overlapped_tx_length : 40750
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26486648
Intersect_end : 26527398
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
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P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374992Gene_name : LOC105374992;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_926638
Tx_version : 2
Tx_start : 26781145
Tx_end : 26803584
Exon_count : 3
Overlapped_tx_length : 22439
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26781145
Intersect_end : 26803584
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
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PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041; chr6:26730911-26850041
B_gain_AFmax : 0.01
B_loss_source : esv2763937
B_loss_coord : 6:26681694-26995155
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901282Gene_name : LOC124901282;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059515
Tx_version : 1
Tx_start : 25121688
Tx_end : 25135191
Exon_count : 3
Overlapped_tx_length : 13503
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25121688
Intersect_end : 25135191
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
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P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901287Gene_name : LOC124901287;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059520
Tx_version : 1
Tx_start : 26285679
Tx_end : 26298964
Exon_count : 2
Overlapped_tx_length : 13285
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26285679
Intersect_end : 26298964
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
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P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105375107Gene_name : LOC105375107;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : 5'UTR-3'UTR
Tx : XM_011515048
Tx_version : 2
Tx_start : 27312168
Tx_end : 27313736
Exon_count : 3
Overlapped_tx_length : 1568
Overlapped_CDS_length : 684
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27312168
Intersect_end : 27313736
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC102724736Gene_name : LOC102724736;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_427895
Tx_version : 4
Tx_start : 22662393
Tx_end : 22674065
Exon_count : 4
Overlapped_tx_length : 11672
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22662393
Intersect_end : 22674065
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374981Gene_name : LOC105374981;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059514
Tx_version : 1
Tx_start : 24933974
Tx_end : 24950491
Exon_count : 3
Overlapped_tx_length : 16517
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24933974
Intersect_end : 24950491
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901295Gene_name : LOC124901295;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_007059538
Tx_version : 1
Tx_start : 28489729
Tx_end : 28490987
Exon_count : 2
Overlapped_tx_length : 1258
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28489729
Intersect_end : 28490987
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374989Gene_name : LOC105374989;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_187833
Tx_version : 1
Tx_start : 26602732
Tx_end : 26606661
Exon_count : 2
Overlapped_tx_length : 3929
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26602732
Intersect_end : 26606661
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901281Gene_name : LOC124901281;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059512
Tx_version : 1
Tx_start : 25327705
Tx_end : 25421292
Exon_count : 3
Overlapped_tx_length : 93587
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25327705
Intersect_end : 25421292
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374991Gene_name : LOC105374991;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_926636
Tx_version : 2
Tx_start : 26698083
Tx_end : 26720541
Exon_count : 3
Overlapped_tx_length : 22458
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26698083
Intersect_end : 26720541
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041; chr6:26688630-26738915
B_gain_AFmax : 0.01
B_loss_source : esv2763937
B_loss_coord : 6:26681694-26995155
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901278Gene_name : LOC124901278;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059508
Tx_version : 1
Tx_start : 24689706
Tx_end : 24695771
Exon_count : 2
Overlapped_tx_length : 6065
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24689706
Intersect_end : 24695771
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374998Gene_name : LOC105374998;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_926659
Tx_version : 2
Tx_start : 28399818
Tx_end : 28404283
Exon_count : 2
Overlapped_tx_length : 4465
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28399818
Intersect_end : 28404283
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC102724851Gene_name : LOC102724851;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_001744059
Tx_version : 3
Tx_start : 26671119
Tx_end : 26687841
Exon_count : 3
Overlapped_tx_length : 16722
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26671119
Intersect_end : 26687841
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC102724749Gene_name : LOC102724749;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_187789
Tx_version : 1
Tx_start : 23337690
Tx_end : 23404141
Exon_count : 8
Overlapped_tx_length : 66451
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23337690
Intersect_end : 23404141
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124900220Gene_name : LOC124900220;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059946
Tx_version : 1
Tx_start : 24166272
Tx_end : 24166374
Exon_count : 1
Overlapped_tx_length : 102
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24166272
Intersect_end : 24166374
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:24064663-24179744; chr6:24158565-24172815; chr6:24165416-24205513
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901506Gene_name : LOC124901506;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_007059937
Tx_version : 1
Tx_start : 28015567
Tx_end : 28015777
Exon_count : 1
Overlapped_tx_length : 210
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28015567
Intersect_end : 28015777
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901283Gene_name : LOC124901283;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059516
Tx_version : 1
Tx_start : 25230234
Tx_end : 25232616
Exon_count : 2
Overlapped_tx_length : 2382
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25230234
Intersect_end : 25232616
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:25135836-25318772
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901280Gene_name : LOC124901280;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059510
Tx_version : 1
Tx_start : 24792798
Tx_end : 24795836
Exon_count : 3
Overlapped_tx_length : 3038
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 24792798
Intersect_end : 24795836
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901293Gene_name : LOC124901293;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_007059536
Tx_version : 1
Tx_start : 27217665
Tx_end : 27218761
Exon_count : 2
Overlapped_tx_length : 1096
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27217665
Intersect_end : 27218761
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:27207088-27239384
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901290Gene_name : LOC124901290;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059532
Tx_version : 1
Tx_start : 26815126
Tx_end : 26842925
Exon_count : 4
Overlapped_tx_length : 27799
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26815126
Intersect_end : 26842925
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26665722-26850041; chr6:26730911-26850041
B_gain_AFmax : 0.01
B_loss_source : esv2763937
B_loss_coord : 6:26681694-26995155
B_loss_AFmax : 0.0100
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC107986586Gene_name : LOC107986586;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_001744073
Tx_version : 2
Tx_start : 28543060
Tx_end : 28544997
Exon_count : 3
Overlapped_tx_length : 1937
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28543060
Intersect_end : 28544997
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374971Gene_name : LOC105374971;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_001744025
Tx_version : 1
Tx_start : 22390978
Tx_end : 22590314
Exon_count : 8
Overlapped_tx_length : 199336
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22390978
Intersect_end : 22590314
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC102724765Gene_name : LOC102724765;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : NR_187802
Tx_version : 1
Tx_start : 25014951
Tx_end : 25036141
Exon_count : 3
Overlapped_tx_length : 21190
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25014951
Intersect_end : 25036141
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901285Gene_name : LOC124901285;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059518
Tx_version : 1
Tx_start : 25836153
Tx_end : 25860194
Exon_count : 2
Overlapped_tx_length : 24041
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25836153
Intersect_end : 25860194
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
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P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901288Gene_name : LOC124901288;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059522
Tx_version : 1
Tx_start : 26331817
Tx_end : 26340285
Exon_count : 2
Overlapped_tx_length : 8468
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26331817
Intersect_end : 26340285
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26319182-26368254
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901292Gene_name : LOC124901292;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_007059535
Tx_version : 1
Tx_start : 27666971
Tx_end : 27668573
Exon_count : 2
Overlapped_tx_length : 1602
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27666971
Intersect_end : 27668573
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27535526-27745500; chr6:27650582-27702362; chr6:27661220-27678121; chr6:27661236-27692521; chr6:27666701-27680455
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
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.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901284Gene_name : LOC124901284;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_007059517
Tx_version : 1
Tx_start : 25681872
Tx_end : 25698974
Exon_count : 2
Overlapped_tx_length : 17102
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25681872
Intersect_end : 25698974
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
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PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
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P_snvindel_phen : .
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B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC101928663Gene_name : LOC101928663;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_110862
Tx_version : 1
Tx_start : 25244915
Tx_end : 25261407
Exon_count : 4
Overlapped_tx_length : 16492
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25244915
Intersect_end : 25261407
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
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P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:25135836-25318772
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374986Gene_name : LOC105374986;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_001744053
Tx_version : 2
Tx_start : 26257499
Tx_end : 26261928
Exon_count : 2
Overlapped_tx_length : 4429
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26257499
Intersect_end : 26261928
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC285819Gene_name : LOC285819;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_038992
Tx_version : 1
Tx_start : 26471943
Tx_end : 26482509
Exon_count : 4
Overlapped_tx_length : 10566
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26471943
Intersect_end : 26482509
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374974Gene_name : LOC105374974;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_926583
Tx_version : 3
Tx_start : 23056296
Tx_end : 23177045
Exon_count : 3
Overlapped_tx_length : 120749
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23056296
Intersect_end : 23177045
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901294Gene_name : LOC124901294;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_007059537
Tx_version : 1
Tx_start : 28485428
Tx_end : 28489490
Exon_count : 2
Overlapped_tx_length : 4062
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 28485428
Intersect_end : 28489490
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105375001Gene_name : LOC105375001;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : XR_926664
Tx_version : 4
Tx_start : 27473123
Tx_end : 27475980
Exon_count : 2
Overlapped_tx_length : 2857
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27473123
Intersect_end : 27475980
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC100131289Gene_name : LOC100131289;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.1
Location2 : UTR
Tx : NR_038929
Tx_version : 1
Tx_start : 27761743
Tx_end : 27763187
Exon_count : 3
Overlapped_tx_length : 1444
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 27761743
Intersect_end : 27763187
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27688307-27805373
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC101928743Gene_name : LOC101928743;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : XR_241992
Tx_version : 5
Tx_start : 26324872
Tx_end : 26331958
Exon_count : 3
Overlapped_tx_length : 7086
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26324872
Intersect_end : 26331958
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:26314329-26337911; chr6:26319182-26368254
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374988Gene_name : LOC105374988;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.2
Location2 : UTR
Tx : NR_134611
Tx_version : 1
Tx_start : 26569323
Tx_end : 26574698
Exon_count : 2
Overlapped_tx_length : 5375
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 26569323
Intersect_end : 26574698
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374970Gene_name : LOC105374970;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_926573
Tx_version : 4
Tx_start : 21825779
Tx_end : 21828383
Exon_count : 3
Overlapped_tx_length : 2604
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 21825779
Intersect_end : 21828383
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:21822605-21828571; chr6:21825572-21834169; chr6:21825585-21834264
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374976Gene_name : LOC105374976;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_001744046
Tx_version : 2
Tx_start : 23336745
Tx_end : 23626334
Exon_count : 7
Overlapped_tx_length : 289589
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23336745
Intersect_end : 23626334
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901276Gene_name : LOC124901276;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059506
Tx_version : 1
Tx_start : 23452999
Tx_end : 23455137
Exon_count : 2
Overlapped_tx_length : 2138
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23452999
Intersect_end : 23455137
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:23435435-23456229
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901274Gene_name : LOC124901274;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059492
Tx_version : 1
Tx_start : 21754699
Tx_end : 21755639
Exon_count : 2
Overlapped_tx_length : 940
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 21754699
Intersect_end : 21755639
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105374975Gene_name : LOC105374975;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_001744048
Tx_version : 2
Tx_start : 23416074
Tx_end : 23452922
Exon_count : 3
Overlapped_tx_length : 36848
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23416074
Intersect_end : 23452922
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC124901275Gene_name : LOC124901275;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p22.3
Location2 : UTR
Tx : XR_007059494
Tx_version : 1
Tx_start : 22200988
Tx_end : 22205065
Exon_count : 2
Overlapped_tx_length : 4077
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 22200988
Intersect_end : 22205065
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr6:22158890-22229052
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : .
Gene_count : 1
fullAnnotation_mode : full
PGBD5Gene_name : PGBD5;
LOEUF_bin : 3
GnomAD_pLI : 2.1166e-03
ExAC_pLI : 2.8063e-02
HI : .
TS : .
DDD_HI_percent : 48.19
ExAC_cnvZ : 0.500085368762409
ExAC_delZ : 0.642279723332434
ExAC_dupZ : 0.249131977039584
ExAC_synZ : -0.737773347498986
ExAC_misZ : 1.46623417955869
Closest_left : LOC124904542
Closest_right : LOC124904543
.Location : .
CytoBand : q42.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6371Exomiser_gene_pheno_score : 0.6371
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv16206530; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv18330595; dbVar:nssv15156411; dbVar:nssv16206538; dbVar:nssv15147341
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:219743625-238841078; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:227805228-236496605; 1:228342273-248887399; 1:228696991-240830577; 1:229022910-248918469
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.01; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207762; dbVar:nssv15146761; dbVar:nssv17969414; dbVar:nssv15147312; dbVar:nssv17969425; dbVar:nssv18790855; dbVar:nssv18788500; nssv18789839; dbVar:nssv15146215; dbVar:nssv18842031
po_P_loss_coord : 1:223480381-234456061; 1:225382173-230418801; 1:225943991-231772481; 1:226185125-232872488; 1:228027212-231347792; 1:229431500-231277542; 1:230067282-231277542; 1:230106272-243677283; 1:230178122-243646135
po_P_loss_percent : 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.06; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 1:230332011-230332053
Repeat_type_left : (AC)n
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.650
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
PGBD5Gene_name : PGBD5;
LOEUF_bin : 3
GnomAD_pLI : 2.1166e-03
ExAC_pLI : 2.8063e-02
HI : .
TS : .
DDD_HI_percent : 48.19
ACMG : .
ExAC_cnvZ : 0.500085368762409
ExAC_delZ : 0.642279723332434
ExAC_dupZ : 0.249131977039584
ExAC_synZ : -0.737773347498986
ExAC_misZ : 1.46623417955869
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79605
intron5-intron5Location : intron5-intron5
CytoBand : q42.13
Location2 : CDS
Tx : NM_001258311
Tx_version : 2
Tx_start : 230314489
Tx_end : 230426332
Exon_count : 7
Overlapped_tx_length : 701
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 103
Nearest_SS_type : 5'
Intersect_start : 230332039
Intersect_end : 230332740
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.6371Exomiser_gene_pheno_score : 0.6371
Human_pheno_evidence : .
Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; anophthalmia
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 71
Gene_count : 1
fullAnnotation_mode : full
SRP54Gene_name : SRP54;
LOEUF_bin : 0
GnomAD_pLI : 9.9895e-01
ExAC_pLI : 9.9669e-01
HI : .
TS : .
DDD_HI_percent : 5.86
ExAC_cnvZ : -0.412776867653258
ExAC_delZ : 1.03488143591068
ExAC_dupZ : -0.993394402600268
ExAC_synZ : 0.251139859379423
ExAC_misZ : 3.4941819010966
Closest_left : IGBP1P1
Closest_right : FAM177A1
.Location : .
CytoBand : q13.2
604857; OMIM_ID : 604857;
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4383Exomiser_gene_pheno_score : 0.4383
DPhenoGenius_specificity : D
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15146564; dbVar:nssv15146758; dbVar:nssv16207193; dbVar:nssv17976958; dbVar:nssv15148269; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv15146403
po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20000612-38984415; 14:20022694-44093672; 14:20043514-44359827; 14:20043514-47012000; 14:20043514-48642042; 14:20043515-106877229; 14:20151150-106855263; 14:30670315-44990595
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15145699; dbVar:nssv17976070; dbVar:nssv15145700; dbVar:nssv15148040; dbVar:nssv15146746; dbVar:nssv16867366; dbVar:nssv15125670; dbVar:nssv15148193; dbVar:nssv18786359
po_P_loss_coord : 14:20196946-45284802; 14:20694105-50246884; 14:23548961-41983402; 14:30382555-37712341; 14:30792272-44685131; 14:33139720-44101164; 14:33579942-48879620; 14:33880413-42359485; 14:34435202-36314930
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 14:34988283-34988578; 14:34988579-34988620
Repeat_type_left : AluSc; (AT)n
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 14:34988283-34988578; 14:34988579-34988620
Repeat_type_right : AluSc; (AT)n
Gap_right : .
GC_content_right : 0.330
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 71
splitAnnotation_mode : split
SRP54Gene_name : SRP54;
LOEUF_bin : 0
GnomAD_pLI : 9.9895e-01
ExAC_pLI : 9.9669e-01
HI : .
TS : .
DDD_HI_percent : 5.86
ACMG : .
ExAC_cnvZ : -0.412776867653258
ExAC_delZ : 1.03488143591068
ExAC_dupZ : -0.993394402600268
ExAC_synZ : 0.251139859379423
ExAC_misZ : 3.4941819010966
GenCC_disease : Shwachman-Diamond syndrome; autosomal dominant severe congenital neutropenia; neutropenia, severe congenital, 8, autosomal dominant
GenCC_moi : AD; AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 28972538; 28972538[PMID]; 29914977; 29914977[PMID]; 29956078; 33839879; 34549814
NCBI_gene_ID : 6729
intron1-intron1Location : intron1-intron1
CytoBand : q13.2
Location2 : 5'UTR
Tx : NM_001146282
Tx_version : 2
Tx_start : 34982991
Tx_end : 35029567
Exon_count : 15
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5363
Nearest_SS_type : 5'
Intersect_start : 34988578
Intersect_end : 34988579
604857; OMIM_ID : 604857;
OMIM_phenotype : Neutropenia, severe congenital, 8, AD, 618752 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
0.4383Exomiser_gene_pheno_score : 0.4383
Human_pheno_evidence : Abnormal finger morphology; Brachydactyly; Shwachman-Diamond syndrome
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.03
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 1
fullAnnotation_mode : full
KRT18Gene_name : KRT18;
LOEUF_bin : 2
GnomAD_pLI : 7.3477e-01
ExAC_pLI : 6.2478e-01
HI : .
TS : .
DDD_HI_percent : 24.42
ExAC_cnvZ : -2.08591281464869
ExAC_delZ : -1.70705765244577
ExAC_dupZ : -2.35370767181841
ExAC_synZ : 0.293810969850224
ExAC_misZ : 2.35097474085048
Closest_left : MIR9898
Closest_right : EIF4B
.Location : .
CytoBand : q13.13
148070; OMIM_ID : 148070;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
DPhenoGenius_specificity : D
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15147395
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:52851851-53558824
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Cirrhosis, cryptogenic, 215600 (3) AR; Cirrhosis, noncryptogenic, susceptibility to, 215600 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15139461; morbid:KRT18
po_P_loss_coord : 12:50122360-53248460; 12:52949118-52952906
po_P_loss_percent : 0.00; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.535
full=NAACMG_class : full=NA
TRASV_type : TRA
SV_length : 0
splitAnnotation_mode : split
KRT18Gene_name : KRT18;
LOEUF_bin : 2
GnomAD_pLI : 7.3477e-01
ExAC_pLI : 6.2478e-01
HI : .
TS : .
DDD_HI_percent : 24.42
ACMG : .
ExAC_cnvZ : -2.08591281464869
ExAC_delZ : -1.70705765244577
ExAC_dupZ : -2.35370767181841
ExAC_synZ : 0.293810969850224
ExAC_misZ : 2.35097474085048
GenCC_disease : cirrhosis, familial
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 8522591
NCBI_gene_ID : 3875
exon3-exon3Location : exon3-exon3
CytoBand : q13.13
Location2 : CDS
Tx : NM_199187
Tx_version : 2
Tx_start : 52948854
Tx_end : 52952906
Exon_count : 8
Overlapped_tx_length : 1
Overlapped_CDS_length : 1
Overlapped_CDS_percent : 0
Frameshift : yes
Dist_nearest_SS : 12
Nearest_SS_type : 5'
Intersect_start : 52950397
Intersect_end : 52950398
148070; OMIM_ID : 148070;
OMIM_phenotype : Cirrhosis, cryptogenic, 215600 (3) AR;
(Cirrhosis, noncryptogenic, susceptibility to), 215600 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
DPhenoGenius_specificity : D
PhenoGenius_phenotype : .
PhenoGenius_score : 0.02
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 86
Gene_count : 1
fullAnnotation_mode : full
MRPL42Gene_name : MRPL42;
LOEUF_bin : 6
GnomAD_pLI : 3.9597e-02
ExAC_pLI : 2.7882e-02
HI : .
TS : .
DDD_HI_percent : 36.74
ExAC_cnvZ : 1.41854434711091
ExAC_delZ : 0.993345016246907
ExAC_dupZ : 1.21316360484147
ExAC_synZ : -0.568423582088697
ExAC_misZ : -0.203592200373667
Closest_left : UBE2N
Closest_right : LOC124902985
.Location : .
CytoBand : q22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15137772
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:91044319-109133210
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15775824; dbVar:nssv15136150
po_P_loss_coord : 12:77343844-93936750; 12:90996509-94872818
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr12:93483144-93485028
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr12:93483144-93485028 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr12:90450660-95571272 gnomAD-SV_v3_DEL_chr12_bbc157a2
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:93484612-93484897; 12:93484962-93484979; 12:93484980-93485028; 12:93485032-93485152
Repeat_type_left : AluSx; (AC)n; (AT)n; AluJo
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:93484612-93484897; 12:93484962-93484979; 12:93484980-93485028; 12:93485032-93485152
Repeat_type_right : AluSx; (AC)n; (AT)n; AluJo
Gap_right : .
GC_content_right : 0.365
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 86
splitAnnotation_mode : split
MRPL42Gene_name : MRPL42;
LOEUF_bin : 6
GnomAD_pLI : 3.9597e-02
ExAC_pLI : 2.7882e-02
HI : .
TS : .
DDD_HI_percent : 36.74
ACMG : .
ExAC_cnvZ : 1.41854434711091
ExAC_delZ : 0.993345016246907
ExAC_dupZ : 1.21316360484147
ExAC_synZ : -0.568423582088697
ExAC_misZ : -0.203592200373667
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 28977
intron4-intron4Location : intron4-intron4
CytoBand : q22
Location2 : CDS
Tx : NM_014050
Tx_version : 4
Tx_start : 93467513
Tx_end : 93516214
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2524
Nearest_SS_type : 3'
Intersect_start : 93484971
Intersect_end : 93484972
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr12:93483144-93485028
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2
B_loss_coord : chr12:90450660-95571272
B_loss_AFmax : 0.7257
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 72
Gene_count : 1
fullAnnotation_mode : full
NAALAD2Gene_name : NAALAD2;
LOEUF_bin : 6
GnomAD_pLI : 1.4282e-20
ExAC_pLI : 7.0245e-15
HI : .
TS : .
DDD_HI_percent : 55.11
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.80644307778252
ExAC_misZ : -0.380026508216263
Closest_left : LOC124900309
Closest_right : CHORDC1
.Location : .
CytoBand : q14.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15171776; dbVar:nssv16207107
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:83468154-94983834; 11:85119100-92296767
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161308; dbVar:nssv17969476; dbVar:nssv15161277; dbVar:nssv15157249; dbVar:nssv17969477; dbVar:nssv18329245; dbVar:nssv15131270; dbVar:nssv17969478; dbVar:nssv15145765; dbVar:nssv15150613; dbVar:nssv15125487
po_P_loss_coord : 11:11814023-118502397; 11:75941755-98357960; 11:78144164-98131717; 11:78232837-106779420; 11:80342411-113445514; 11:80607953-96383057; 11:81767468-104796313; 11:82060811-91118019; 11:85213631-93841633; 11:85242848-102920097; 11:88419291-109543924; 11:88423396-114620616
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1B_gain_source : IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1
B_gain_coord : chr11:85116816-92300786; chr11:90142831-90204832; 11:90159908-90159999; chr11:90159916-90160137
B_gain_AFmax : 0.1100
B_loss_source : dbVar
B_loss_coord : chr11:90119031-90173537
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr11:90142831-90204832 dbVar; chr11:90159916-90160137 gnomAD-SV_v3_DUP_chr11_207a25f1
po_B_gain_someG_coord : chr11:85116816-92300786 dbVar; 11:90159908-90159999 IMH
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr11:90119031-90173537 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:90159671-90159976
Repeat_type_left : AluSp
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:90159671-90159976
Repeat_type_right : AluSp
Gap_right : .
GC_content_right : 0.380
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 72
splitAnnotation_mode : split
NAALAD2Gene_name : NAALAD2;
LOEUF_bin : 6
GnomAD_pLI : 1.4282e-20
ExAC_pLI : 7.0245e-15
HI : .
TS : .
DDD_HI_percent : 55.11
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.80644307778252
ExAC_misZ : -0.380026508216263
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10003
intron10-intron10Location : intron10-intron10
CytoBand : q14.3
Location2 : CDS
Tx : XM_017017043
Tx_version : 3
Tx_start : 90131698
Tx_end : 90192894
Exon_count : 21
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 652
Nearest_SS_type : 5'
Intersect_start : 90159989
Intersect_end : 90159990
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1B_gain_source : IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1
B_gain_coord : chr11:85116816-92300786; chr11:90142831-90204832; 11:90159908-90159999; chr11:90159916-90160137
B_gain_AFmax : 0.1100
B_loss_source : dbVar
B_loss_coord : chr11:90119031-90173537
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 1
fullAnnotation_mode : full
DENND2BGene_name : DENND2B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DENND2B-AS1
Closest_right : AKIP1
.Location : .
CytoBand : p15.4
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161344; dbVar:nssv15171978; dbVar:nssv15605781; dbVar:nssv15158476; dbVar:nssv15153879; dbVar:nssv15150768; dbVar:nssv17976735; dbVar:nssv15150821; dbVar:nssv15149913; dbVar:nssv15153876; dbVar:nssv15150306; nssv15150623; dbVar:nssv16208290; dbVar:nssv15161310; dbVar:nssv15153870
po_P_gain_coord : 11:61794-10727969; 11:70865-135068576; 11:193147-12621589; 11:198511-135064169; 11:230616-17077666; 11:230616-25562816; 11:230616-26859599; 11:230616-31973673; 11:230616-37676990; 11:230616-9682964; 11:230617-135068576; 11:235935-33805449; 11:446755-18904742; 11:6947783-9235684
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:1_pbsv.SPLIT.DUP.249B_gain_source : CMRI:1_pbsv.SPLIT.DUP.249
B_gain_coord : 11:8818099-8979569
B_gain_AFmax : 0.0319
B_loss_source : gnomAD-SV_v3_DEL_chr11_f71dd9b5
B_loss_coord : chr11:8142635-35706287
B_loss_AFmax : 0.0480
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : 11:8818099-8979569 CMRI:1_pbsv.SPLIT.DUP.249
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr11:8142635-35706287 gnomAD-SV_v3_DEL_chr11_f71dd9b5
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:8817980-8818262
Repeat_type_left : AluSx1
Gap_left : .
GC_content_left : 0.545
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:8817980-8818262
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.540
full=NAACMG_class : full=NA
TRASV_type : TRA
SV_length : 0
splitAnnotation_mode : split
DENND2BGene_name : DENND2B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6764
intron2-intron2Location : intron2-intron2
CytoBand : p15.4
Location2 : UTR
Tx : NR_164814
Tx_version : 1
Tx_start : 8693351
Tx_end : 8835758
Exon_count : 20
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6780
Nearest_SS_type : 3'
Intersect_start : 8818115
Intersect_end : 8818116
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:1_pbsv.SPLIT.DUP.249B_gain_source : CMRI:1_pbsv.SPLIT.DUP.249
B_gain_coord : 11:8818099-8979569
B_gain_AFmax : 0.0319
B_loss_source : gnomAD-SV_v3_DEL_chr11_f71dd9b5
B_loss_coord : chr11:8142635-35706287
B_loss_AFmax : 0.0480
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 69
Gene_count : 1
fullAnnotation_mode : full
UFL1-AS1Gene_name : UFL1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105377905
Closest_right : UFL1
.Location : .
CytoBand : q16.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv15152931
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:80551702-97348393
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15133711; dbVar:nssv17970123; dbVar:nssv17970126; dbVar:nssv17970127; dbVar:nssv15151866; dbVar:nssv15152934; dbVar:nssv16216866; dbVar:nssv18330783
po_P_loss_coord : 6:83838304-98822313; 6:85278711-120227541; 6:91345174-118008488; 6:91867233-104210370; 6:93492888-109557631; 6:94840234-116363766; 6:95567163-96814793; 6:96148857-105106693
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:96494375-96500000
Repeat_type_left : L1PA6
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:96494375-96500000
Repeat_type_right : L1PA6
Gap_right : .
GC_content_right : 0.370
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 69
splitAnnotation_mode : split
UFL1-AS1Gene_name : UFL1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100861530
intron1-intron1Location : intron1-intron1
CytoBand : q16.1
Location2 : UTR
Tx : XR_007059687
Tx_version : 1
Tx_start : 96200342
Tx_end : 96521714
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 14810
Nearest_SS_type : 5'
Intersect_start : 96497728
Intersect_end : 96497729
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INVSV_type : INV
SV_length : 5390
Gene_count : 1
fullAnnotation_mode : full
LOC105377862Gene_name : LOC105377862;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124901345
Closest_right : LOC101928570
.Location : .
CytoBand : q14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15606075; dbVar:nssv17970109; dbVar:nssv15148895
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:29487689-80737650; 6:69228361-93669492; 6:74382808-142040500
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.01; 0.02; 0.01
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17976865; dbVar:nssv15138420; dbVar:nssv17957115; dbVar:nssv17956905; dbVar:nssv15154430; dbVar:nssv16255333; dbVar:nssv15139907
po_P_loss_coord : 6:64244795-78871961; 6:64549656-83426791; 6:69455405-79211052; 6:72089352-82566177; 6:72964890-84120055; 6:73516837-79498320; 6:75926200-92710793
po_P_loss_percent : 0.04; 0.03; 0.06; 0.05; 0.05; 0.09; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:76952355-77077360
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:76911804-77118953
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr6:77005072-77013775 dbVar
po_B_gain_someG_coord : chr6:76952355-77077360 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr6:76911804-77118953 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:76998882-76999973; 6:77000010-77000510
Repeat_type_left : L1M5; L1ME2
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:77005450-77008031
Repeat_type_right : L1MB1
Gap_right : .
GC_content_right : 0.295
full=NAACMG_class : full=NA
INVSV_type : INV
SV_length : 5390
splitAnnotation_mode : split
LOC105377862Gene_name : LOC105377862;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : q14.1
Location2 : UTR
Tx : NR_187980
Tx_version : 1
Tx_start : 76774949
Tx_end : 77097788
Exon_count : 4
Overlapped_tx_length : 5391
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 67823
Nearest_SS_type : 3'
Intersect_start : 76999999
Intersect_end : 77005390
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:76952355-77077360
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr6:76911804-77118953
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 1
fullAnnotation_mode : full
HLA-DRB5Gene_name : HLA-DRB5;
LOEUF_bin : 9
GnomAD_pLI : 3.6359e-07
ExAC_pLI : 3.2273e-03
HI : .
TS : .
DDD_HI_percent : 73.74
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 2.33694785555354
ExAC_misZ : 0.996588079530003
Closest_left : HLA-DRA
Closest_right : HLA-DRB6
.Location : .
CytoBand : p21.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15606075; dbVar:nssv16206814
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:29487689-80737650; 6:31068621-34121055
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:20362; DDD:20376; DDD:20377; IMH; dbVarB_gain_source : DDD:20362; DDD:20376; DDD:20377; IMH; dbVar
B_gain_coord : 6:32456665-32717497; chr6:32483478-32517677; chr6:32483478-32517875; chr6:32483478-32518074; chr6:32483478-32518920; chr6:32483478-32524450; chr6:32483478-32526977; 6:32485000-32545095; 6:32501635-32524304; 6:32506644-32611161
B_gain_AFmax : 0.2071
B_loss_source : CMRI:1_pbsv.DEL.547_duplicate4; CMRI:2_pbsv.DEL.704_duplicate4; DDD:20362; DDD:20367; DDD:20368; DDD:20376; DDD:20377; HI40:ISCA-46609; HPRC:pbsv.DEL.2702; IMH; dgv10500n54; dgv1100e199; dgv1101e199; dgv1104e199; esv2422111; esv3890830; gnomAD-SV_v3_DEL_chr6_0a9534bd; gnomAD-SV_v3_DEL_chr6_f0914d13; nsv514350
B_loss_coord : chr6:31328328-33520997; 6:32456665-32717497; 6:32471468-32603047; 6:32473028-32589256; 6:32476122-32565413; 6:32484257-32517715; chr6:32485202-32573526; 6:32486309-32534355; 6:32486419-32549915; 6:32486499-32604184; 6:32486736-32533522; 6:32486907-32573523; 6:32487462-32525353; 6:32487706-32522155; 6:32501635-32524304; 6:32506644-32611161; 6:32508080-32546462; 6:32510928-32549678; chr6:32513849-32575874
B_loss_AFmax : 0.4800
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr6:32483478-32517677 dbVar; chr6:32483478-32518074 dbVar; chr6:32483478-32524450 dbVar; 6:32485000-32545095 IMH; 6:32506644-32611161 DDD:20377
po_B_gain_someG_coord : 6:32456665-32717497 DDD:20362; chr6:32483478-32517875 dbVar; chr6:32483478-32518920 dbVar; chr6:32483478-32526977 dbVar; 6:32501635-32524304 DDD:20376
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 6:32456665-32717497 DDD:20362; 6:32473028-32589256 dgv1100e199; 6:32484257-32517715 esv3890830; 6:32486309-32534355 CMRI:2_pbsv.DEL.704_duplicate4; 6:32486499-32604184 esv2422111; 6:32486907-32573523 CMRI:1_pbsv.DEL.547_duplicate4; 6:32487706-32522155 dgv10500n54; 6:32506644-32611161 DDD:20377; 6:32510928-32549678 dgv1104e199;
po_B_loss_someG_coord : chr6:31328328-33520997 gnomAD-SV_v3_DEL_chr6_f0914d13; 6:32471468-32603047 DDD:20367; 6:32476122-32565413 IMH; chr6:32485202-32573526 HPRC:pbsv.DEL.2702; 6:32486419-32549915 dgv1101e199; 6:32486736-32533522 DDD:20368; 6:32487462-32525353 nsv514350; 6:32501635-32524304 DDD:20376; 6:32508080-32546462 HI40:ISCA-46609; chr6:32513849-32575874 gnomAD-SV_v3_DEL_chr6_0a9534bd
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 6:32510319-32531139
Repeat_coord_left : 6:32517198-32517317; 6:32517363-32517391
Repeat_type_left : L1MA8; (T)n
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 6:32510319-32531139
Repeat_coord_right : 6:32517198-32517317; 6:32517363-32517391
Repeat_type_right : L1MA8; (T)n
Gap_right : .
GC_content_right : 0.365
full=NAACMG_class : full=NA
TRASV_type : TRA
SV_length : 0
splitAnnotation_mode : split
HLA-DRB5Gene_name : HLA-DRB5;
LOEUF_bin : 9
GnomAD_pLI : 3.6359e-07
ExAC_pLI : 3.2273e-03
HI : .
TS : .
DDD_HI_percent : 73.74
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 2.33694785555354
ExAC_misZ : 0.996588079530003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3127
exon6-exon6Location : exon6-exon6
CytoBand : p21.32
Location2 : 3'UTR
Tx : NM_002125
Tx_version : 4
Tx_start : 32517352
Tx_end : 32530287
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 358
Nearest_SS_type : 3'
Intersect_start : 32517393
Intersect_end : 32517394
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:20362; DDD:20376; DDD:20377; IMH; dbVarB_gain_source : DDD:20362; DDD:20376; DDD:20377; IMH; dbVar
B_gain_coord : 6:32456665-32717497; chr6:32483478-32517677; chr6:32483478-32517875; chr6:32483478-32518074; chr6:32483478-32518920; chr6:32483478-32524450; chr6:32483478-32526977; 6:32485000-32545095; 6:32501635-32524304; 6:32506644-32611161
B_gain_AFmax : 0.2071
B_loss_source : CMRI:1_pbsv.DEL.547_duplicate4; CMRI:2_pbsv.DEL.704_duplicate4; DDD:20362; DDD:20367; DDD:20368; DDD:20376; DDD:20377; HI40:ISCA-46609; HPRC:pbsv.DEL.2702; IMH; dgv10500n54; dgv1100e199; dgv1101e199; dgv1104e199; esv2422111; esv3890830; gnomAD-SV_v3_DEL_chr6_0a9534bd; gnomAD-SV_v3_DEL_chr6_f0914d13; nsv514350
B_loss_coord : chr6:31328328-33520997; 6:32456665-32717497; 6:32471468-32603047; 6:32473028-32589256; 6:32476122-32565413; 6:32484257-32517715; chr6:32485202-32573526; 6:32486309-32534355; 6:32486419-32549915; 6:32486499-32604184; 6:32486736-32533522; 6:32486907-32573523; 6:32487462-32525353; 6:32487706-32522155; 6:32501635-32524304; 6:32506644-32611161; 6:32508080-32546462; 6:32510928-32549678; chr6:32513849-32575874
B_loss_AFmax : 0.4800
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : .
Gene_count : 1
fullAnnotation_mode : full
SERINC5Gene_name : SERINC5;
LOEUF_bin : 4
GnomAD_pLI : 6.6351e-06
ExAC_pLI : 8.3990e-04
HI : .
TS : .
DDD_HI_percent : 55.33
ExAC_cnvZ : 0.192868311646413
ExAC_delZ : -0.442492579470342
ExAC_dupZ : 0.531402562096017
ExAC_synZ : -1.67872659959894
ExAC_misZ : 0.800104915045169
Closest_left : LOC124901201
Closest_right : LOC644936
.Location : .
CytoBand : q14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
DHFR (morbid/RE=GH_promoter_enhancer); RE_gene : DHFR (morbid/RE=GH_promoter_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15164765; dbVar:nssv15151111; nssv15151221; dbVar:nssv16206767; dbVar:nssv15120567
po_P_gain_coord : 5:13649-181478028; 5:25330-181266343; 5:113463-181292788; 5:73494237-98143166; 5:74163187-110809453
po_P_gain_percent : 0.01; 0.01; 0.01; 0.04; 0.03
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151179
po_P_loss_coord : 5:17628633-177148719
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; dgv1108e214B_gain_source : dbVar; dgv1108e214
B_gain_coord : chr5:79938116-80691032; 5:80166804-80387438
B_gain_AFmax : 0.5000
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : 5:80166804-80387438 dgv1108e214; chr5:80261569-80268701 dbVar
po_B_gain_someG_coord : chr5:79938116-80691032 dbVar; chr5:80252235-80264017 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 5:80261369-80261683 CMRI:2_pbsv.DEL.1435_duplicate2; chr5:80261369-80261683 dbVar; chr5:80261380-80261683 dbVar;
po_B_loss_someG_coord : chr5:80238295-80255108 dbVar; chr5:80261369-80261683 HPRC:pbsv.DEL.6411; 5:80261370-80261683 esv2662609; chr5:80261380-80261683 gnomAD-SV_v3_DEL_chr5_af605a0a
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 5:80251747-80251901
Repeat_type_left : LTR82B
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.280
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
SERINC5Gene_name : SERINC5;
LOEUF_bin : 4
GnomAD_pLI : 6.6351e-06
ExAC_pLI : 8.3990e-04
HI : .
TS : .
DDD_HI_percent : 55.33
ACMG : .
ExAC_cnvZ : 0.192868311646413
ExAC_delZ : -0.442492579470342
ExAC_dupZ : 0.531402562096017
ExAC_synZ : -1.67872659959894
ExAC_misZ : 0.800104915045169
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 256987
txStart-intron1Location : txStart-intron1
CytoBand : q14.1
Location2 : 5'UTR-CDS
Tx : NM_001174071
Tx_version : 3
Tx_start : 80111224
Tx_end : 80256048
Exon_count : 13
Overlapped_tx_length : 4150
Overlapped_CDS_length : 27
Overlapped_CDS_percent : 2
Frameshift : no
Dist_nearest_SS : 3997
Nearest_SS_type : 5'
Intersect_start : 80251898
Intersect_end : 80256048
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; dgv1108e214B_gain_source : dbVar; dgv1108e214
B_gain_coord : chr5:79938116-80691032; 5:80166804-80387438
B_gain_AFmax : 0.5000
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 55
Gene_count : 1
fullAnnotation_mode : full
MCF2L2Gene_name : MCF2L2;
LOEUF_bin : 4
GnomAD_pLI : 1.1565e-24
ExAC_pLI : 1.6127e-12
HI : .
TS : .
DDD_HI_percent : 63.45
ExAC_cnvZ : -0.502634800387437
ExAC_delZ : -2.00231703714954
ExAC_dupZ : 0.40280827112354
ExAC_synZ : 1.17753738225999
ExAC_misZ : 0.366004400627627
Closest_left : LOC107986160
Closest_right : SNHG33
.Location : .
CytoBand : q27.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
.PhenoGenius_specificity : .
MCCC1 (morbid/RE=EA_enhancer); RE_gene : MCCC1 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148025; dbVar:nssv15147564; dbVar:nssv15146977; dbVar:nssv15145927; dbVar:nssv15147555; dbVar:nssv15147518; dbVar:nssv15145707; dbVar:nssv15149548; dbVar:nssv15148262; dbVar:nssv15147549; dbVar:nssv15146719; dbVar:nssv16207928; dbVar:nssv18326383; dbVar:nssv15164224; dbVar:nssv17955953; dbVar:nssv15147464; dbVar:nssv15148839; dbVar:nssv15142547; dbVar:nssv15147600; dbVar:nssv15153539
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:103426883-198110178; 3:143276179-193279426; 3:147521893-198096565; 3:152100513-198118383; 3:156118442-198125115; 3:156321879-198113452; 3:157293379-198134727; 3:159262843-198040019; 3:166137210-198125115; 3:167717963-188365272; 3:168167569-198110178; 3:169899903-190876065; 3:171831632-198235559; 3:173563477-198111391; 3:175401411-187874692; 3:176168526-198118383; 3:176439912-198118383; 3:177528706-198110178; 3:177772524-185716872; 3:182821447-198125115
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16297147; dbVar:nssv15146004; dbVar:nssv18326464; dbVar:nssv16297143; dbVar:nssv15148941; dbVar:nssv17969921; dbVar:nssv15153540; dbVar:nssv18790597; dbVar:nssv16255537
po_P_loss_coord : 3:181116549-183833873; 3:181138665-192512023; 3:181344388-185756721; 3:181453423-184988303; 3:182319765-186443121; 3:182471738-187495147; 3:182932894-191558020; 3:183015439-184376309; 3:183159504-187112971
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr3:183360539-183366446
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr3:183360539-183366446 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:183360688-183360987; 3:183360988-183361141; 3:183361160-183361191
Repeat_type_left : AluSq; A-rich; (GGAA)n
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:183360688-183360987; 3:183360988-183361141; 3:183361160-183361191
Repeat_type_right : AluSq; A-rich; (GGAA)n
Gap_right : .
GC_content_right : 0.335
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 55
splitAnnotation_mode : split
MCF2L2Gene_name : MCF2L2;
LOEUF_bin : 4
GnomAD_pLI : 1.1565e-24
ExAC_pLI : 1.6127e-12
HI : .
TS : .
DDD_HI_percent : 63.45
ACMG : .
ExAC_cnvZ : -0.502634800387437
ExAC_delZ : -2.00231703714954
ExAC_dupZ : 0.40280827112354
ExAC_synZ : 1.17753738225999
ExAC_misZ : 0.366004400627627
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23101
intron3-intron3Location : intron3-intron3
CytoBand : q27.1
Location2 : CDS
Tx : NM_015078
Tx_version : 4
Tx_start : 183178040
Tx_end : 183428619
Exon_count : 30
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 18219
Nearest_SS_type : 5'
Intersect_start : 183361076
Intersect_end : 183361077
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
0.0000Exomiser_gene_pheno_score : 0.0000
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr3:183360539-183366446
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : .
Gene_count : 1
fullAnnotation_mode : full
LOC105376959Gene_name : LOC105376959;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01267
Closest_right : SLC6A6
.Location : .
CytoBand : p25.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
SLC6A6 (morbid/RE=GH_enhancer); RE_gene : SLC6A6 (morbid/RE=GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv17969827; dbVar:nssv15151098; dbVar:nssv17969828; dbVar:nssv15149909; dbVar:nssv15149891; nssv15151839; dbVar:nssv15145877; dbVar:nssv15147393; dbVar:nssv15146217; dbVar:nssv15148928; dbVar:nssv15146372; dbVar:nssv15153450; dbVar:nssv15152843; dbVar:nssv15133494; dbVar:nssv15163762; dbVar:nssv18326445; dbVar:nssv15139669; dbVar:nssv17955660
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20214-24391330; 3:20214-33916709; 3:20214-36668690; 3:20214-37417973; 3:20215-198125115; 3:32242-20334387; 3:32242-30064208; 3:52267-37148076; 3:53309-41381521; 3:63844-19510600; 3:1856289-19477593; 3:5132186-16718755; 3:11463329-38919543; 3:13234506-24253749; 3:13794844-25315936; 3:14360748-21656134; 3:14364978-14467580
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.10
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17976929; dbVar:nssv15142081
po_P_loss_coord : 3:13371738-20095506; 3:13678724-17766744
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573
B_loss_AFmax : 0.0446
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:14396767-14397239
Repeat_type_left : L1ME2
Gap_left : .
GC_content_left : 0.595
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:14396767-14397239
Repeat_type_right : L1ME2
Gap_right : .
GC_content_right : 0.570
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : .
splitAnnotation_mode : split
LOC105376959Gene_name : LOC105376959;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron4-intron4Location : intron4-intron4
CytoBand : p25.1
Location2 : UTR
Tx : XR_007095825
Tx_version : 1
Tx_start : 14389741
Tx_end : 14402407
Exon_count : 8
Overlapped_tx_length : 101
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5
Nearest_SS_type : 5'
Intersect_start : 14396802
Intersect_end : 14396903
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573
B_loss_AFmax : 0.0446
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INVSV_type : INV
SV_length : 674
Gene_count : 1
fullAnnotation_mode : full
LOC105373224Gene_name : LOC105373224;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : CHRM3-AS1
Closest_right : RPS7P5
.Location : .
CytoBand : q43
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
FMN2 (morbid/RE=GH_enhancer); CHRM3 (morbid/R[...]RE_gene : FMN2 (morbid/RE=GH_enhancer); CHRM3 (morbid/RE=GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv15156411; dbVar:nssv16206538; dbVar:nssv15147341; dbVar:nssv15149590; dbVar:nssv15170725; dbVar:nssv15149119; dbVar:nssv15774642; dbVar:nssv15776729
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:228342273-248887399; 1:228696991-240830577; 1:229022910-248918469; 1:231535125-248918801; 1:232096590-248924793; 1:233915119-248918860; 1:235419266-248930485; 1:238505994-248930485
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15146215; dbVar:nssv18842031; dbVar:nssv17969448; dbVar:nssv15125505; dbVar:nssv18330325; dbVar:nssv18326340; dbVar:nssv15141219; dbVar:nssv18841919; dbVar:nssv15149874; dbVar:nssv15170728; dbVar:nssv15148823; dbVar:nssv15773669; dbVar:nssv15148210; dbVar:nssv15146578; dbVar:nssv15148138; dbVar:nssv15148243; dbVar:nssv15146635; dbVar:nssv15133237; dbVar:nssv15755165; dbVar:nssv15146644; dbVar:nssv15148925; dbVar:nssv15146499; dbVar:nssv15146500; dbVar:nssv18330244
po_P_loss_coord : 1:230106272-243677283; 1:230178122-243646135; 1:232090864-240847604; 1:232510679-242493037; 1:232596376-243174914; 1:232877249-248912719; 1:234469808-240768905; 1:235215477-247005888; 1:235634085-248930485; 1:236453917-244352076; 1:236556083-248918469; 1:237081535-242147606; 1:237643282-248918469; 1:237906380-244022201; 1:238033576-248924534; 1:238192881-248930485; 1:238351122-248918469; 1:238412093-241098768; 1:238654324-243974928; 1:238753750-248918467; 1:239288026-242458053; 1:239558431-248918469; 1:239629869-248924593; 1:239747661-248930485
po_P_loss_percent : 0.00; 0.01; 0.01; 0.01; 0.01; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.01; 0.01; 0.02; 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr1:239811336-239953758; chr1:239949966-240058047
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr1:239947020-239963616
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr1:239949966-240058047 dbVar
po_B_gain_someG_coord : chr1:239811336-239953758 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr1:239947020-239963616 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.580
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.520
full=NAACMG_class : full=NA
INVSV_type : INV
SV_length : 674
splitAnnotation_mode : split
LOC105373224Gene_name : LOC105373224;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-exon1Location : txStart-exon1
CytoBand : q43
Location2 : UTR
Tx : XR_949315
Tx_version : 4
Tx_start : 239914599
Tx_end : 239953006
Exon_count : 3
Overlapped_tx_length : 297
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 245
Nearest_SS_type : 5'
Intersect_start : 239952709
Intersect_end : 239953006
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
Human_pheno_evidence : .
Mouse_pheno_evidence : .
Fish_pheno_evidence : .
.PhenoGenius_specificity : .
PhenoGenius_phenotype : .
PhenoGenius_score : -1.0
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr1:239811336-239953758; chr1:239949966-240058047
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr1:239947020-239963616
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105379273
Closest_right : LOC107987343
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : .
po_P_gain_coord : .
po_P_gain_percent : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : Y:11778158-11856234
Repeat_coord_left : Y:11818958-11818999
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : Y:11778158-11856234
Repeat_coord_right : Y:11818958-11818999
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.375
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : C22orf42
Closest_right : RFPL2
.Location : .
CytoBand : q12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161992; dbVar:nssv15164031; dbVar:nssv15150031; dbVar:nssv16254742; dbVar:nssv15150491; dbVar:nssv15146973; dbVar:nssv15161990; dbVar:nssv15774756; dbVar:nssv15149512; nssv15150794; dbVar:nssv15146613; dbVar:nssv15147269; dbVar:nssv15128500; dbVar:nssv15135998; dbVar:nssv15154019; dbVar:nssv15134705; dbVar:nssv15142303; dbVar:nssv15132509; dbVar:nssv15141185; dbVar:nssv16208602
po_P_gain_coord : 22:16367191-50757300; 22:16367191-50772964; 22:16367191-50782474; 22:16367191-50785824; 22:16367191-50799035; 22:16367191-50799090; 22:16367191-50805007; 22:16408174-50759410; 22:16408175-50759410; 22:16916609-50739836; 22:16916744-50739785; 22:18145366-50806138; 22:20907227-37187347; 22:22106345-34802241; 22:23279232-36247369; 22:23295721-36218366; 22:26979580-33992220; 22:27953867-32617076; 22:30258776-50759410
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr22:32069077-32384600; chr22:32132680-32307112; chr22:32154513-32189513
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr22:32174835-32185134; chr22:32175039-32185298
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr22:32132680-32307112 dbVar;
po_B_gain_someG_coord : chr22:32069077-32384600 dbVar; chr22:32154513-32189513 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr22:32175039-32185298 dbVar
po_B_loss_someG_coord : chr22:32174835-32185134 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 22:32175878-32184749
Repeat_coord_left : 22:32179692-32179763; 22:32179764-32179771; 22:32179772-32179851
Repeat_type_left : (AC)n; (ACAT)n; MADE1
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 22:32175878-32184749
Repeat_coord_right : 22:32179692-32179763; 22:32179764-32179771; 22:32179772-32179851
Repeat_type_right : (AC)n; (ACAT)n; MADE1
Gap_right : .
GC_content_right : 0.375
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC102724200
Closest_right : LINC01670
.Location : .
CytoBand : p12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : .
po_P_gain_coord : .
po_P_gain_percent : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region
ENCODE_blacklist_left : 21:1-8679600
SegDup_left : 21:5216248-5223848; 21:5216248-5223848; 21:5216248-5244683; 21:5216248-5246242; 21:5216248-5249366; 21:5216250-5230164; 21:5216258-5225878; 21:5216317-5248319
Repeat_coord_left : 21:5216248-5216649
Repeat_type_left : L1MA9
Gap_left : .
GC_content_left : 0.300
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region
ENCODE_blacklist_right : 21:1-8679600
SegDup_right : 21:5216248-5223848; 21:5216248-5223848; 21:5216248-5244683; 21:5216248-5246242; 21:5216248-5249366; 21:5216250-5230164; 21:5216258-5225878; 21:5216317-5248319
Repeat_coord_right : 21:5216248-5216649
Repeat_type_right : L1MA9
Gap_right : .
GC_content_right : 0.300
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FRG1CP
Closest_right : FRG1DP
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15143157; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243; dbVar:nssv17969245; dbVar:nssv15126160
po_P_gain_coord : 20:80107-30227427; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-30285316; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051; 20:25461962-35173747; 20:25774465-40429426
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region
ENCODE_blacklist_left : 20:28939401-29264700
SegDup_left : 20:29045066-29054930; 20:29045066-29067121; 20:29045066-29095772; 20:29045066-29104712; 20:29045066-29108496; 20:29045066-29117887; 20:29045066-29125693; 20:29045066-29125796; 20:29047069-29083608; 20:29047069-29125796
Repeat_coord_left : 20:29054317-29056657
Repeat_type_left : L1MA9
Gap_left : .
GC_content_left : 0.320
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region
ENCODE_blacklist_right : 20:28939401-29264700
SegDup_right : 20:29045066-29054930; 20:29045066-29067121; 20:29045066-29095772; 20:29045066-29104712; 20:29045066-29108496; 20:29045066-29117887; 20:29045066-29125693; 20:29045066-29125796; 20:29047069-29083608; 20:29047069-29125796
Repeat_coord_right : 20:29054317-29056657
Repeat_type_right : L1MA9
Gap_right : .
GC_content_right : 0.325
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904678
Closest_right : LOC105372345
.Location : .
CytoBand : q11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15173860; dbVar:nssv15150638; nssv15150782; dbVar:nssv15173861; dbVar:nssv15147244; dbVar:nssv15147146; dbVar:nssv15146318; dbVar:nssv17955801
po_P_gain_coord : 19:68030-58598923; 19:260913-58445521; 19:260913-58585793; 19:11227943-44626354; 19:13974678-27839676; 19:17176768-34924150; 19:19436115-40807324
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region
ENCODE_blacklist_left : 19:24330101-27274500
SegDup_left : .
Repeat_coord_left : 19:27240877-27250823
Repeat_type_left : ALR/Alpha
Gap_left : 19:27190875-27240874
GC_content_left : 0.130 (132 N)
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region
ENCODE_blacklist_right : 19:24330101-27274500
SegDup_right : .
Repeat_coord_right : 19:27240877-27250823
Repeat_type_right : ALR/Alpha
Gap_right : 19:27190875-27240874
GC_content_right : 0.130 (131 N)
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 50
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : UNC13A
Closest_right : MAP1S
.Location : .
CytoBand : p13.11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15173860; dbVar:nssv15150638; nssv15150782; dbVar:nssv15173861; dbVar:nssv15147244; dbVar:nssv15147146; dbVar:nssv16254308; dbVar:nssv15145840; dbVar:nssv15174494; dbVar:nssv15146318
po_P_gain_coord : 19:68030-58598923; 19:260913-58445521; 19:260913-58585793; 19:11227943-44626354; 19:13974678-27839676; 19:14175813-20773947; 19:15133595-24193591; 19:16415977-24448802; 19:17176768-34924150
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151072
po_P_loss_coord : 19:15848538-17790487
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr19:17705852-17723331
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr19:17705852-17723331 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 19:17708263-17708899
Repeat_type_left : (TATATAA)n
Gap_left : .
GC_content_left : 0.120
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 19:17708263-17708899
Repeat_type_right : (TATATAA)n
Gap_right : .
GC_content_right : 0.115
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02167
Closest_right : .
.Location : .
CytoBand : p11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv15126469; dbVar:nssv15150356
po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:31974778-90228345; 16:34963122-64475151
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region
ENCODE_blacklist_left : 16:36225201-46423000
SegDup_left : .
Repeat_coord_left : 16:36337669-36500000
Repeat_type_left : ALR/Alpha
Gap_left : .
GC_content_left : 0.400
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region
ENCODE_blacklist_right : 16:36225201-46423000
SegDup_right : .
Repeat_coord_right : 16:36337669-36500000
Repeat_type_right : ALR/Alpha
Gap_right : .
GC_content_right : 0.405
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02349
Closest_right : LOC124903501
.Location : .
CytoBand : q22.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15172447; dbVar:nssv15125410; dbVar:nssv15172190; dbVar:nssv15149616; dbVar:nssv15150618; nssv15150717; dbVar:nssv15151655; dbVar:nssv15148445; dbVar:nssv18329578; dbVar:nssv15147594; dbVar:nssv15146047
po_P_gain_coord : 15:19811559-101953337; 15:19858088-101981189; 15:19866421-101920959; 15:20528157-101971413; 15:23319715-101888909; 15:30822845-101814654; 15:41452887-101814595; 15:48297649-63251239; 15:59005095-101940685; 15:59828461-101920998
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv15140571; dbVar:nssv15132072; dbVar:nssv15121017; dbVar:nssv15142027
po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:54421361-62477096; 15:57456077-61907285; 15:57567951-63019415; 15:57796306-61929557
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr15_6b875bca; gnomAD-SV_v3_DEL_chr15_c4d4814a
B_loss_coord : chr15:32070448-77618522; chr15:56865558-77618525
B_loss_AFmax : 0.9955
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr15:56865558-77618525 gnomAD-SV_v3_DEL_chr15_c4d4814a
po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 15:61772098-61773495
Repeat_type_left : L1MEc
Gap_left : .
GC_content_left : 0.290
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 15:61772098-61773495
Repeat_type_right : L1MEc
Gap_right : .
GC_content_right : 0.290
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : .
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124900329
Closest_right : LOC124903079
.Location : .
CytoBand : q24.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15148260
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:114268404-133201316
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17974049; dbVar:nssv17969556
po_P_loss_coord : 12:112682848-114924779; 12:114557841-114939120
po_P_loss_percent : 0.01; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr12:114823194-114917195
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr12:114823194-114917195 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:114828266-114828453
Repeat_type_left : MER103C
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124902228
Closest_right : ANKS6
.Location : .
CytoBand : q22.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147961; dbVar:nssv17970351; dbVar:nssv15147345; dbVar:nssv15153083; dbVar:nssv17970381; dbVar:nssv15775708; dbVar:nssv15148134; dbVar:nssv15146551; dbVar:nssv15141942
po_P_gain_coord : 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203863-138125937; 9:204194-138179445; 9:353350-138125937; 9:68420431-106579493; 9:68454828-138105476; 9:68735079-119841132; 9:68801560-138125937; 9:69627643-111454304; 9:88522293-113687796; 9:94790895-100157101
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17976658; dbVar:nssv16215226; dbVar:nssv15120788; dbVar:nssv16865887; dbVar:nssv17971843; dbVar:nssv15142176
po_P_loss_coord : 9:91102693-103899300; 9:93363794-105772991; 9:95061031-108695569; 9:95072292-104436807; 9:97428467-100300674; 9:97862911-99366856
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr9:98582490-99663995; chr9:98682173-98728622
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr9:98682173-98728622 dbVar
po_B_gain_someG_coord : chr9:98582490-99663995 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 9:98709141-98720221
Repeat_coord_left : 9:98712735-98712812; 9:98712849-98712892
Repeat_type_left : MADE1; (TG)n
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 9:98709141-98720221
Repeat_coord_right : 9:98712735-98712812; 9:98712849-98712892
Repeat_type_right : MADE1; (TG)n
Gap_right : .
GC_content_right : 0.365
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INVSV_type : INV
SV_length : 103
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC102724080
Closest_right : LOC105376123
.Location : .
CytoBand : q21.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147961; dbVar:nssv17970351; dbVar:nssv15152084; dbVar:nssv15147345; dbVar:nssv15153083; dbVar:nssv17970381; dbVar:nssv15775708; dbVar:nssv15148134; dbVar:nssv15605845
po_P_gain_coord : 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-88130444; 9:203863-138125937; 9:204194-138179445; 9:353350-138125937; 9:68351347-88146339; 9:68420431-106579493; 9:68454828-138105476; 9:68735079-119841132; 9:68801560-138125937; 9:69627643-111454304; 9:76905910-94438992
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15135929
po_P_loss_coord : 9:86079852-91827221
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr9:86539642-86540940 HPRC:pbsv.DEL.4480; 9:86539643-86541030 IMH; 9:86539662-86540997 1000g;
po_B_loss_someG_coord : 9:86539642-86540940 CMRI:3_pbsv.DEL.1233_duplicate2; chr9:86539642-86541031 dbVar; chr9:86539661-86540997 dbVar; 9:86539662-86540997 esv3620958
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 9:86540288-86540866
Repeat_type_left : L2
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : .
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : EIF3IP1
Closest_right : LOC105375451
.Location : .
CytoBand : q31.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv17970243; dbVar:nssv16208848; dbVar:nssv16206899
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:107343843-129309648; 7:109611004-159327017; 7:109954943-114245148
po_P_gain_percent : 0.03; 0.03; 0.03; 0.03; 0.07; 0.07; 0.19; 0.08; 0.98
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv17970239; dbVar:nssv17970240; dbVar:nssv15132621; dbVar:nssv15135220; dbVar:nssv15122028; dbVar:nssv16208150; dbVar:nssv15777267; dbVar:nssv15126350; dbVar:nssv15125914; dbVar:nssv15149094; dbVar:nssv15146938
po_P_loss_coord : 7:54186-159282390; 7:99819849-111946253; 7:101033592-119516106; 7:101807150-112414850; 7:102196925-121278641; 7:106261940-111228036; 7:106976962-123577860; 7:107769870-118185495; 7:108156201-123536527; 7:108172813-111974915; 7:108862565-115331733; 7:109409603-111490602
po_P_loss_percent : 0.03; 0.35; 0.23; 0.40; 0.22; 0.85; 0.25; 0.40; 0.27; 1.10; 0.65; 2.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr7:110309934-110319378 dbVar
po_B_loss_someG_coord : chr7:110285474-110285530 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:110278340-110278441; 7:110278550-110278660
Repeat_type_left : L1M5; L1M5
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:110320010-110320729
Repeat_type_right : MER11A
Gap_right : .
GC_content_right : 0.465
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124900753
Closest_right : RPL34-DT
.Location : .
CytoBand : q25
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv17956560; dbVar:nssv15142052; dbVar:nssv17956567; dbVar:nssv15121045; dbVar:nssv17969974; dbVar:nssv15165140; dbVar:nssv15120562; dbVar:nssv15151155
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:52000779-142661354; 4:92150002-190036318; 4:94569605-109056060; 4:96092894-136410207; 4:103794079-144331443; 4:104118037-109488822; 4:105778348-110206873; 4:108278509-188831572
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_b7efc8a3; gnomAD-SV_v3_DEL_chr4_e8bd9f62
B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:105985332-120588333
B_loss_AFmax : 0.7587
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62;
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:105985332-120588333 gnomAD-SV_v3_DEL_chr4_b7efc8a3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:108408718-108408771; 4:108408772-108408829; 4:108408841-108410586
Repeat_type_left : AluY; (CCTCTCC)n; SVA_E
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:108408718-108408771; 4:108408772-108408829; 4:108408841-108410586
Repeat_type_right : AluY; (CCTCTCC)n; SVA_E
Gap_right : .
GC_content_right : 0.485
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01946
Closest_right : MEMO1
.Location : .
CytoBand : p22.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161566; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv15161279; dbVar:nssv15161375; dbVar:nssv18330214; dbVar:nssv15174677; dbVar:nssv15129649; dbVar:nssv17683481; dbVar:nssv17649985; dbVar:nssv15141007; dbVar:nssv15141897
po_P_gain_coord : 2:10002-242157305; 2:12771-33711509; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:66098-55570637; 2:236817-45983232; 2:706461-35298573; 2:22442177-52623230; 2:22699680-33767010; 2:24378950-43239145; 2:24658660-43232882; 2:27638841-60563850; 2:27847016-43316281
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15152706; dbVar:nssv17969625; dbVar:nssv15775815; dbVar:nssv15119949; dbVar:nssv15120770; dbVar:nssv15771945
po_P_loss_coord : 2:11364193-110608419; 2:29017139-32155807; 2:29676503-42214300; 2:29717608-36586154; 2:31368633-32087629; 2:31370182-32512769; 2:31733909-33721428
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr2:31799931-31825931
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr2:31799931-31825931 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:31823404-31823459
Repeat_type_left : Penelope1_Vert
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:31823404-31823459
Repeat_type_right : Penelope1_Vert
Gap_right : .
GC_content_right : 0.485
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
TRASV_type : TRA
SV_length : 0
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107985466
Closest_right : LINC01347
.Location : .
CytoBand : q43
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
-1.0Exomiser_gene_pheno_score : -1.0
.PhenoGenius_specificity : .
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv15156411; dbVar:nssv15147341; dbVar:nssv15149590; dbVar:nssv15170725; dbVar:nssv15149119; dbVar:nssv15774642; dbVar:nssv15776729; dbVar:nssv15145719; dbVar:nssv15156414; dbVar:nssv15145830; dbVar:nssv15136049; dbVar:nssv15142850; dbVar:nssv15140102; dbVar:nssv15119915
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:228342273-248887399; 1:229022910-248918469; 1:231535125-248918801; 1:232096590-248924793; 1:233915119-248918860; 1:235419266-248930485; 1:238505994-248930485; 1:240244445-248891309; 1:240794756-243535565; 1:241625116-245453782; 1:241967140-245542967; 1:242161097-248930485; 1:242493159-248918801; 1:242828732-248891309
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15146215; dbVar:nssv18842031; dbVar:nssv18330325; dbVar:nssv18326340; dbVar:nssv18841919; dbVar:nssv15149874; dbVar:nssv15170728; dbVar:nssv15148823; dbVar:nssv15148210; dbVar:nssv15146578; dbVar:nssv15148138; dbVar:nssv15148243; dbVar:nssv15146635; dbVar:nssv15755165; dbVar:nssv15146644; dbVar:nssv15146499; dbVar:nssv15146500; dbVar:nssv18330244; dbVar:nssv16867377; dbVar:nssv15150727; dbVar:nssv15145856; dbVar:nssv15153348; dbVar:nssv15146579; dbVar:nssv15147199; dbVar:nssv15133000; dbVar:nssv15131783; dbVar:nssv18329412; dbVar:nssv15605825; dbVar:nssv15138053; dbVar:nssv15123369; dbVar:nssv18841924; dbVar:nssv15124422; dbVar:nssv15133001; dbVar:nssv15770792; dbVar:nssv16207770; dbVar:nssv15133002; dbVar:nssv16207771; dbVar:nssv17976952
po_P_loss_coord : 1:230106272-243677283; 1:230178122-243646135; 1:232596376-243174914; 1:232877249-248912719; 1:235215477-247005888; 1:235634085-248930485; 1:236453917-244352076; 1:236556083-248918469; 1:237643282-248918469; 1:237906380-244022201; 1:238033576-248924534; 1:238192881-248930485; 1:238351122-248918469; 1:238654324-243974928; 1:238753750-248918467; 1:239558431-248918469; 1:239629869-248924593; 1:239747661-248930485; 1:240391656-247179291; 1:240456985-247527115; 1:240465123-248918469; 1:240887871-248930485; 1:241047423-248924593; 1:241459441-247704671; 1:241676909-245647727; 1:241757250-248891309; 1:241881896-248918469; 1:241987033-246355060; 1:242045280-248930485; 1:242100311-244396371; 1:242164275-245299473; 1:242193907-246215521; 1:242240798-245200164; 1:242268257-243843190; 1:242319881-244923746; 1:242410570-245413313; 1:242546033-244062209; 1:242653209-244633815
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : DDD:4461; dbVar
B_loss_coord : chr1:242879460-243000891; 1:242888528-242959068
B_loss_AFmax : 0.0118
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 1:242888528-242959068 DDD:4461
po_B_loss_someG_coord : chr1:242879460-243000891 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 1:242879127-242956979
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.275
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 1:242879127-242956979
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.275